ClinVar Genomic variation as it relates to human health
NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
556 | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 3, 2022 | RCV002289197.1 | |
Pathogenic (1) |
|
Jul 15, 2023 | RCV003560933.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024