ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Sep 3, 2022
- Most recent Submission:
- Sep 3, 2022
- Accession:
- VCV001703618.1
- Variation ID:
- 1703618
- Description:
- copy number loss
Help
GRCh37/hg19 17p13.3(chr17:525-1464281)
Help
Aggregate interpretations per condition
Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|---|
Pathogenic | 1 | no assertion criteria provided | - | RCV002280706.1 |
Help
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score Help | TS score Help | Within gene | All | |||
ABR | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
60 | 185 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 105 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
55 | 182 | |
BHLHA9 | - | - |
GRCh38 GRCh37 |
45 | 161 | |
C17orf97 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 43 |
CRK | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 116 | |
DOC2B | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 65 | |
GEMIN4 | - | - |
GRCh38 GRCh37 |
105 | 212 | |
GLOD4 | - | - | - |
GRCh38 GRCh37 |
8 | 119 |
INPP5K | - | - |
GRCh38 GRCh37 |
73 | 178 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Submitted interpretations and evidence
HelpInterpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
---|---|---|---|---|---|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Miller Dieker syndrome
Affected status: yes
Allele origin:
unknown
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
Accession: SCV002568970.1
First in ClinVar: Sep 03, 2022 Last updated: Sep 03, 2022 |
Clinical Features:
Specific learning disability (present) , Memory impairment (present)
|
Functional evidence
HelpThere is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
HelpThere are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Record last updated Sep 03, 2022