ClinVar Genomic variation as it relates to human health
NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)
Germline
Classification
(3)
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 | |||
USH2A | - | - |
GRCh38 GRCh37 |
7055 | - | |
USH2A-AS1 | - | - | - | GRCh38 | - | 727 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 7, 2022 | RCV003097723.3 | |
Pathogenic (1) |
|
Nov 4, 2023 | RCV003454076.1 | |
See cases
|
Pathogenic (1) |
|
Dec 4, 2021 | RCV004584488.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024