ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11811C>T (p.His3937=)

gnomAD frequency: 0.00013  dbSNP: rs370924416
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170266 SCV001332828 benign Cardiomyopathy 2018-03-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170266 SCV001359471 likely benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing
Invitae RCV002558705 SCV001633157 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327418 SCV002634284 likely benign Cardiovascular phenotype 2018-01-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003918758 SCV004732897 likely benign RYR2-related condition 2020-09-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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