ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_7700440)_(8601397_?)dup
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CAMTA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
583 | 690 | |
ERRFI1 | - | - |
GRCh38 GRCh37 |
25 | 67 | |
PARK7 | - | - |
GRCh38 GRCh37 |
142 | 186 | |
PER3 | - | - |
GRCh38 GRCh37 |
87 | 171 | |
RERE | - | - |
GRCh38 GRCh37 |
708 | 758 | |
SLC45A1 | - | - |
GRCh38 GRCh37 |
124 | 167 | |
TNFRSF9 | - | - |
GRCh38 GRCh37 |
148 | 192 | |
UTS2 | - | - |
GRCh38 GRCh37 |
12 | 59 | |
VAMP3 | - | - |
GRCh38 GRCh37 |
7 | 57 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 6, 2022 | RCV003116550.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023