ClinVar Genomic variation as it relates to human health
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser)
Germline
Classification
(8)
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 | |||
RYR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8927 | 9242 | |
LOC126862902 | - | - | - | GRCh38 | - | 184 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 27, 2017 | RCV001126016.4 | |
Uncertain significance (1) |
|
Apr 27, 2017 | RCV001126015.4 | |
Uncertain significance (2) |
|
Jan 11, 2024 | RCV001128106.6 | |
Uncertain significance (1) |
|
Mar 18, 2022 | RCV001294251.3 | |
Uncertain significance (1) |
|
Aug 24, 2021 | RCV002482249.1 | |
Uncertain significance (1) |
|
Apr 12, 2024 | RCV004590101.1 | |
Uncertain significance (1) |
|
Apr 23, 2024 | RCV004587047.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs369040621 ...
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