ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11208G>A (p.Ala3736=)

gnomAD frequency: 0.00002  dbSNP: rs750384592
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002522768 SCV000541657 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178584 SCV001343060 likely benign Cardiomyopathy 2018-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436381 SCV002750964 likely benign Cardiovascular phenotype 2019-04-15 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001178584 SCV003838723 likely benign Cardiomyopathy 2021-06-18 criteria provided, single submitter clinical testing

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