ClinVar Genomic variation as it relates to human health
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
Germline
Classification
(5)
Uncertain significance
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 |
6944 | 8419 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (2) |
|
May 7, 2022 | RCV002287127.3 | |
Uncertain significance (1) |
|
Dec 7, 2021 | RCV003097715.2 | |
Uncertain significance (1) |
|
Nov 4, 2023 | RCV003454074.1 | |
Uncertain significance (1) |
|
Nov 4, 2023 | RCV003454075.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024