ClinVar for MedGen (Select 338506) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18032341.	NM_153676.4(USH1C):c.387+1G>A GRCh37: Chr11:17552700 GRCh38: Chr11:17531153	USH1C		Usher syndrome type 1C	Likely pathogenic (Jan 7, 2021)	criteria provided, single submitter
Select item 17269162.	NM_153676.4(USH1C):c.301_311del (p.Ser101fs) GRCh37: Chr11:17552777-17552787 GRCh38: Chr11:17531230-17531240	USH1C	S101fs	Usher syndrome type 1C	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17268343.	NM_153676.4(USH1C):c.546G>A (p.Trp182Ter) GRCh37: Chr11:17548333 GRCh38: Chr11:17526786	USH1C	W182*	Usher syndrome type 1C	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17268254.	NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs) GRCh37: Chr11:17554821-17554822 GRCh38: Chr11:17533274-17533275	USH1C	V29fs	Usher syndrome type 1C	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17264595.	NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs) GRCh37: Chr11:17519768-17519775 GRCh38: Chr11:17498221-17498228	USH1C	K489fs, K508fs, K808fs	Usher syndrome type 1C	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 17263536.	NM_153676.4(USH1C):c.84_85insC (p.Val29fs) GRCh37: Chr11:17554821-17554822 GRCh38: Chr11:17533274-17533275	USH1C	V29fs	Usher syndrome type 1C	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 17261957.	NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs) GRCh37: Chr11:17544424-17544425 GRCh38: Chr11:17522877-17522878	USH1C	Q290fs, Q309fs	Usher syndrome type 1C	Likely pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 17254068.	NM_153676.4(USH1C):c.916G>T (p.Glu306Ter) GRCh37: Chr11:17544434 GRCh38: Chr11:17522887	USH1C	E287, E306	Usher syndrome type 1C	Likely pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 17247309.	NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs) GRCh37: Chr11:17552761-17552762 GRCh38: Chr11:17531214-17531215	USH1C	C110fs	Usher syndrome type 1C	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172449010.	NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter) GRCh37: Chr11:17523034 GRCh38: Chr11:17501487	USH1C	K440, K459, K759*	Usher syndrome type 1C	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172428911.	NM_153676.4(USH1C):c.891_892del (p.Met298fs) GRCh37: Chr11:17544458-17544459 GRCh38: Chr11:17522911-17522912	USH1C	M279fs, M298fs	Usher syndrome type 1C	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 172428612.	NM_153676.4(USH1C):c.913_925del (p.Ala305fs) GRCh37: Chr11:17544425-17544437 GRCh38: Chr11:17522878-17522890	USH1C	A286fs, A305fs	Usher syndrome type 1C	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 172425713.	NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs) GRCh37: Chr11:17519801-17519802 GRCh38: Chr11:17498254-17498255	USH1C	D481fs, D500fs, D800fs	Usher syndrome type 1C	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172419914.	NM_153676.4(USH1C):c.2359del (p.Arg787fs) GRCh37: Chr11:17522619 GRCh38: Chr11:17501072	USH1C	R468fs, R487fs, R787fs	Usher syndrome type 1C	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 172418615.	NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter) GRCh37: Chr11:17554825 GRCh38: Chr11:17533278	USH1C	Y27*	Usher syndrome type 1C	Likely pathogenic (Nov 7, 2021)	criteria provided, single submitter
Select item 169896916.	NM_153676.4(USH1C):c.194T>C (p.Leu65Pro) GRCh37: Chr11:17553000 GRCh38: Chr11:17531453	USH1C	L65P	Usher syndrome type 1C	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 133367417.	NM_153676.4(USH1C):c.917_939dup (p.Gln315fs) GRCh37: Chr11:17544410-17544411 GRCh38: Chr11:17522863-17522864	USH1C	Q296fs, Q315fs	Usher syndrome type 1C	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 131546018.	NM_153676.4(USH1C):c.1793G>A (p.Arg598His) GRCh37: Chr11:17531123 GRCh38: Chr11:17509576	USH1C	R598H	not provided, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Uncertain significance (Jan 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124926619.	NM_153676.4(USH1C):c.2134-22dup GRCh37: Chr11:17526254-17526255 GRCh38: Chr11:17504707-17504708	USH1C		not provided	Benign (Aug 10, 2019)	criteria provided, single submitter
Select item 121299620.	NM_153676.4(USH1C):c.2184+21T>G GRCh37: Chr11:17526173 GRCh38: Chr11:17504626	USH1C		not provided	Likely benign (Apr 7, 2019)	criteria provided, single submitter
Select item 120966521.	NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys) GRCh37: Chr11:17523040 GRCh38: Chr11:17501493	USH1C	R438C, R457C, R757C	not provided, Usher syndrome, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Conflicting interpretations of pathogenicity (Dec 31, 2022)	criteria provided, conflicting interpretations
Select item 118190722.	NM_153676.4(USH1C):c.2134-11T>C GRCh37: Chr11:17526255 GRCh38: Chr11:17504708	USH1C		not provided	Likely benign (Feb 19, 2019)	criteria provided, single submitter
Select item 118058523.	NM_153676.4(USH1C):c.1413+52C>T GRCh37: Chr11:17533397 GRCh38: Chr11:17511850	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118057324.	NM_153676.4(USH1C):c.2546+125A>G GRCh37: Chr11:17518180 GRCh38: Chr11:17496633	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118056025.	NM_153676.4(USH1C):c.521+56A>G GRCh37: Chr11:17548507 GRCh38: Chr11:17526960	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118055926.	NM_153676.4(USH1C):c.579+61G>A GRCh37: Chr11:17548239 GRCh38: Chr11:17526692	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 111890427.	NM_153676.4(USH1C):c.204G>T (p.Leu68=) GRCh37: Chr11:17552990 GRCh38: Chr11:17531443	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 106067728.	NM_153676.4(USH1C):c.579+8C>T GRCh37: Chr11:17548292 GRCh38: Chr11:17526745	USH1C		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 106028829.	NM_153676.4(USH1C):c.538C>G (p.Leu180Val) GRCh37: Chr11:17548341 GRCh38: Chr11:17526794	USH1C	L180V	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 105676130.	NM_153676.4(USH1C):c.163C>T (p.Arg55Cys) GRCh37: Chr11:17553031 GRCh38: Chr11:17531484	USH1C	R55C	not provided	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 104235531.	NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn) GRCh37: Chr11:17522661 GRCh38: Chr11:17501114	USH1C	D454N, D473N, D773N	not provided	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103905432.	NM_153676.4(USH1C):c.614G>A (p.Arg205Gln) GRCh37: Chr11:17547954 GRCh38: Chr11:17526407	USH1C	R205Q	not provided	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 101945833.	NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys) GRCh37: Chr11:17522607 GRCh38: Chr11:17501060	USH1C	E472K, E491K, E791K	not provided	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 101905634.	NM_153676.4(USH1C):c.358G>A (p.Gly120Ser) GRCh37: Chr11:17552730 GRCh38: Chr11:17531183	USH1C	G120S	not provided	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 101457435.	NM_153676.4(USH1C):c.781G>A (p.Val261Ile) GRCh37: Chr11:17545004 GRCh38: Chr11:17523457	USH1C	V261I	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 100950536.	NM_153676.4(USH1C):c.238C>T (p.Arg80Trp) GRCh37: Chr11:17552956 GRCh38: Chr11:17531409	USH1C	R80W	not provided	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 100752437.	NM_153676.4(USH1C):c.530A>G (p.Asp177Gly) GRCh37: Chr11:17548349 GRCh38: Chr11:17526802	USH1C	D177G	not provided	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 100599438.	NM_153676.4(USH1C):c.928C>T (p.Arg310Cys) GRCh37: Chr11:17544422 GRCh38: Chr11:17522875	USH1C	R291C, R310C	not provided	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 100556539.	NM_153676.4(USH1C):c.239G>A (p.Arg80Gln) GRCh37: Chr11:17552955 GRCh38: Chr11:17531408	USH1C	R80Q	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 100346540.	NM_153676.4(USH1C):c.502G>A (p.Gly168Ser) GRCh37: Chr11:17548582 GRCh38: Chr11:17527035	USH1C	G168S	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 100105041.	NM_153676.4(USH1C):c.844C>T (p.Arg282Cys) GRCh37: Chr11:17544790 GRCh38: Chr11:17523243	USH1C	R282C	not provided	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 100073442.	NM_153676.4(USH1C):c.2312G>T (p.Gly771Val) GRCh37: Chr11:17522666 GRCh38: Chr11:17501119	USH1C	G452V, G471V, G771V	Inborn genetic diseases, not provided	Uncertain significance (Jan 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99208943.	NM_153676.4(USH1C):c.341T>C (p.Ile114Thr) GRCh37: Chr11:17552747 GRCh38: Chr11:17531200	USH1C	I114T	not provided	Uncertain significance (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99208844.	NM_153676.4(USH1C):c.405C>G (p.Val135=) GRCh37: Chr11:17548861 GRCh38: Chr11:17527314	USH1C		not provided	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 99208745.	NM_153676.4(USH1C):c.412A>G (p.Asn138Asp) GRCh37: Chr11:17548854 GRCh38: Chr11:17527307	USH1C	N138D	Usher syndrome type 1C	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99208646.	NM_153676.4(USH1C):c.442G>A (p.Glu148Lys) GRCh37: Chr11:17548824 GRCh38: Chr11:17527277	USH1C	E148K	not provided	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 99208547.	NM_153676.4(USH1C):c.501C>T (p.Ile167=) GRCh37: Chr11:17548583 GRCh38: Chr11:17527036	USH1C		not provided	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 99208448.	NM_153676.4(USH1C):c.514G>T (p.Val172Leu) GRCh37: Chr11:17548570 GRCh38: Chr11:17527023	USH1C	V172L	not provided	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 99208349.	NM_153676.4(USH1C):c.567G>T (p.Val189=) GRCh37: Chr11:17548312 GRCh38: Chr11:17526765	USH1C		not provided	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 99208250.	NM_153676.4(USH1C):c.600C>T (p.Gly200=) GRCh37: Chr11:17547968 GRCh38: Chr11:17526421	USH1C		not provided	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 99208151.	NM_153676.4(USH1C):c.776T>G (p.Val259Gly) GRCh37: Chr11:17545009 GRCh38: Chr11:17523462	USH1C	V259G	Usher syndrome type 1C	Uncertain significance (Apr 11, 2020)	no assertion criteria provided
Select item 99208052.	NM_153676.4(USH1C):c.864T>G (p.Ile288Met) GRCh37: Chr11:17544770 GRCh38: Chr11:17523223	USH1C	I288M	not provided	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 99207953.	NM_153676.4(USH1C):c.1183C>T (p.His395Tyr) GRCh37: Chr11:17542444 GRCh38: Chr11:17520897	USH1C	H376Y, H395Y	not provided, Usher syndrome type 1C, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99207854.	NM_005709.4(USH1C):c.1218G>T (p.Gln406His) GRCh37: Chr11:17539014 GRCh38: Chr11:17517467	USH1C	Q387H, Q406H	Usher syndrome type 1C	Uncertain significance (Apr 11, 2020)	no assertion criteria provided
Select item 99207755.	NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn) GRCh37: Chr11:17538977 GRCh38: Chr11:17517430	USH1C	D400N, D419N	not provided	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 99207656.	NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp) GRCh37: Chr11:17523049 GRCh38: Chr11:17501502	USH1C	R435W, R454W, R754W	Inborn genetic diseases, not provided	Uncertain significance (Sep 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99207557.	NM_153676.4(USH1C):c.2270G>A (p.Arg757His) GRCh37: Chr11:17523039 GRCh38: Chr11:17501492	USH1C	R438H, R457H, R757H	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1, not provided	Uncertain significance (Oct 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99207458.	NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe) GRCh37: Chr11:17522657 GRCh38: Chr11:17501110	USH1C	S455F, S474F, S774F	Usher syndrome type 1C	Uncertain significance (Apr 11, 2020)	no assertion criteria provided
Select item 99207359.	NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn) GRCh37: Chr11:17522651 GRCh38: Chr11:17501104	USH1C	I457N, I476N, I776N	Usher syndrome type 1C	Uncertain significance (Aug 28, 2020)	no assertion criteria provided
Select item 99207260.	NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp) GRCh37: Chr11:17522604 GRCh38: Chr11:17501057	USH1C	R473W, R492W, R792W	not provided, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Uncertain significance (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 97261661.	NM_153676.4(USH1C):c.901C>T (p.Arg301Trp) GRCh37: Chr11:17544449 GRCh38: Chr11:17522902	USH1C	R282W, R301W	not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97239962.	NM_153676.4(USH1C):c.2310C>T (p.Gly770=) GRCh37: Chr11:17522668 GRCh38: Chr11:17501121	USH1C		not provided	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 96952363.	NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys) GRCh37: Chr11:17519798 GRCh38: Chr11:17498251	USH1C	E501K, E801K, E482K	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 96855964.	NM_153676.4(USH1C):c.361G>A (p.Gly121Ser) GRCh37: Chr11:17552727 GRCh38: Chr11:17531180	USH1C	G121S	Usher syndrome type 1C, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96672965.	NM_153676.4(USH1C):c.407G>A (p.Arg136Gln) GRCh37: Chr11:17548859 GRCh38: Chr11:17527312	USH1C	R136Q	not specified, not provided	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96588166.	NM_153676.4(USH1C):c.870T>A (p.Ala290=) GRCh37: Chr11:17544764 GRCh38: Chr11:17523217	USH1C		not provided	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 95727867.	NM_153676.4(USH1C):c.409A>G (p.Ile137Val) GRCh37: Chr11:17548857 GRCh38: Chr11:17527310	USH1C	I137V	not provided	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 95069568.	NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn) GRCh37: Chr11:17518312 GRCh38: Chr11:17496765	USH1C	D847N, D528N, D547N	Inborn genetic diseases, not provided	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94354569.	NM_153676.4(USH1C):c.2225T>C (p.Met742Thr) GRCh37: Chr11:17523487 GRCh38: Chr11:17501940	USH1C	M423T, M742T, M442T	not provided	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 93896270.	NM_153676.4(USH1C):c.952C>A (p.Leu318Ile) GRCh37: Chr11:17544398 GRCh38: Chr11:17522851	USH1C	L318I, L299I	not provided	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 92992571.	NM_153676.4(USH1C):c.121G>A (p.Val41Met) GRCh37: Chr11:17553073 GRCh38: Chr11:17531526	USH1C	V41M	not specified, not provided, Inborn genetic diseases	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92992272.	NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) GRCh37: Chr11:17522601 GRCh38: Chr11:17501054	USH1C	H793Y, H474Y, H493Y	Inborn genetic diseases, not specified, Usher syndrome type 1, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Uncertain significance (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88038673.	NM_153676.4(USH1C):c.-109A>T GRCh37: Chr11:17565963 GRCh38: Chr11:17544416	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88038574.	NM_153676.4(USH1C):c.-60T>G GRCh37: Chr11:17565914 GRCh38: Chr11:17544367	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1, Usher syndrome type 1C	Uncertain significance (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88033975.	NM_153676.4(USH1C):c.875C>G (p.Ala292Gly) GRCh37: Chr11:17544759 GRCh38: Chr11:17523212	USH1C	A292G	Usher syndrome type 1C, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88030376.	NM_153676.4(USH1C):c.2490+6A>C GRCh37: Chr11:17519703 GRCh38: Chr11:17498156	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88030277.	NM_153676.4(USH1C):c.2541T>C (p.Asp847=) GRCh37: Chr11:17518310 GRCh38: Chr11:17496763	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87918078.	NM_153676.4(USH1C):c.200C>T (p.Pro67Leu) GRCh37: Chr11:17552994 GRCh38: Chr11:17531447	USH1C	P67L	Usher syndrome type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87913279.	NM_153676.4(USH1C):c.923G>A (p.Arg308Gln) GRCh37: Chr11:17544427 GRCh38: Chr11:17522880	USH1C	R289Q, R308Q	Usher syndrome type 1C, not provided	Uncertain significance (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87913180.	NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile) GRCh37: Chr11:17542914 GRCh38: Chr11:17521367	USH1C	R336I, R355I	Usher syndrome type 1C, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87913081.	NM_153676.4(USH1C):c.1085+7A>G GRCh37: Chr11:17542886 GRCh38: Chr11:17521339	USH1C		Usher syndrome type 1C, not provided	Conflicting interpretations of pathogenicity (Jun 19, 2022)	criteria provided, conflicting interpretations
Select item 87908082.	NM_153676.4(USH1C):c.*110C>G GRCh37: Chr11:17515769 GRCh38: Chr11:17494222	USH1C		Usher syndrome type 1C	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87907983.	NM_153676.4(USH1C):c.*117C>G GRCh37: Chr11:17515762 GRCh38: Chr11:17494215	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87907884.	NM_153676.4(USH1C):c.*131G>C GRCh37: Chr11:17515748 GRCh38: Chr11:17494201	USH1C		Usher syndrome type 1C	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87907785.	NM_153676.4(USH1C):c.*241C>G GRCh37: Chr11:17515638 GRCh38: Chr11:17494091	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87854086.	NM_005709.4(USH1C):c.1220G>C (p.Gly407Ala) GRCh37: Chr11:17539012 GRCh38: Chr11:17517465	USH1C	G407A, G388A	Usher syndrome type 1C, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87853987.	NM_153676.4(USH1C):c.1211-1106G>A GRCh37: Chr11:17538943 GRCh38: Chr11:17517396	USH1C		Usher syndrome type 1C, not provided	Uncertain significance (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87853888.	NM_153676.4(USH1C):c.2253G>A (p.Lys751=) GRCh37: Chr11:17523056 GRCh38: Chr11:17501509	USH1C		Usher syndrome type 1C, not provided	Conflicting interpretations of pathogenicity (Feb 28, 2022)	criteria provided, conflicting interpretations
Select item 87850089.	NM_153676.4(USH1C):c.*427T>C GRCh37: Chr11:17515452 GRCh38: Chr11:17493905	USH1C		Usher syndrome type 1C	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87752290.	NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg) GRCh37: Chr11:17522616 GRCh38: Chr11:17501069	USH1C	G469R, G488R, G788R	Usher syndrome type 1C, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87752191.	NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp) GRCh37: Chr11:17519762 GRCh38: Chr11:17498215	USH1C	Y494D, Y513D, Y813D	Usher syndrome type 1C	Uncertain significance (Jul 21, 2017)	criteria provided, single submitter
Select item 86036892.	NM_153676.4(USH1C):c.822T>A (p.Ala274=) GRCh37: Chr11:17544812 GRCh38: Chr11:17523265	USH1C		not provided	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 85922793.	NM_005709.4(USH1C):c.1283A>G (p.Gln428Arg) GRCh37: Chr11:17538949 GRCh38: Chr11:17517402	USH1C	Q428R, Q409R	not provided	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 84598994.	NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys) GRCh37: Chr11:17522697 GRCh38: Chr11:17501150	USH1C	E761K, E461K, E442K	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 84231895.	NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln) GRCh37: Chr11:17542908 GRCh38: Chr11:17521361	USH1C	R338Q, R357Q	not provided	Uncertain significance (Aug 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83949496.	NM_153676.4(USH1C):c.569C>G (p.Ser190Trp) GRCh37: Chr11:17548310 GRCh38: Chr11:17526763	USH1C	S190W	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 83740797.	NM_153676.4(USH1C):c.907C>T (p.Arg303Trp) GRCh37: Chr11:17544443 GRCh38: Chr11:17522896	USH1C	R284W, R303W	not provided, Inborn genetic diseases	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79960998.	NM_153676.4(USH1C):c.2400C>T (p.Asp800=) GRCh37: Chr11:17519799 GRCh38: Chr11:17498252	USH1C		not provided	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 79761199.	NM_153676.4(USH1C):c.192G>A (p.Pro64=) GRCh37: Chr11:17553002 GRCh38: Chr11:17531455	USH1C		not provided, Usher syndrome type 1C	Conflicting interpretations of pathogenicity (Jun 8, 2022)	criteria provided, conflicting interpretations
Select item 795523100.	NM_153676.4(USH1C):c.1101A>G (p.Glu367=) GRCh37: Chr11:17542526 GRCh38: Chr11:17520979	USH1C		not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter

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