ClinVar Genomic variation as it relates to human health
NM_000540.3(RYR1):c.[11941C>T;8342_8343del]
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
RYR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8892 | 9206 | |
LOC126862902 | - | - | - | GRCh38 | - | 183 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2010 | RCV003388645.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024