ClinVar Genomic variation as it relates to human health
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
Germline
Classification
(8)
Conflicting classifications of pathogenicity
Pathogenic(3); Likely pathogenic(1); Uncertain significance(1)
Pathogenic(3); Likely pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 |
8904 | 9218 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
May 11, 2010 | RCV000056236.4 | |
Pathogenic (3) |
|
Oct 20, 2021 | RCV000119545.9 | |
Pathogenic (1) |
|
Oct 3, 2023 | RCV001046476.6 | |
Uncertain significance (1) |
|
Dec 13, 2023 | RCV003996489.2 | |
Likely pathogenic (1) |
|
Jan 17, 2022 | RCV002496742.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs118192150 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 2024