ClinVar Genomic variation as it relates to human health
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
Germline
Classification
(3)
Pathogenic/Likely 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 |
6920 | 8391 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 14, 2022 | RCV002308478.1 | |
Pathogenic (1) |
|
May 10, 2022 | RCV003099164.2 | |
Likely pathogenic (1) |
|
Apr 27, 2023 | RCV003475338.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024