ClinVar Genomic variation as it relates to human health
NM_022157.4(RRAGC):c.343T>C (p.Trp115Arg)
Germline
Classification
(2)
Likely pathogenic
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 | |||
RRAGC | - | - |
GRCh38 GRCh37 |
10 | 29 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 15, 2022 | RCV003128504.1 | |
Pathogenic (1) |
|
Dec 13, 2023 | RCV003444068.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024