ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7623C>T (p.His2541=)

gnomAD frequency: 0.00004  dbSNP: rs753435083
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002526085 SCV000637614 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777850 SCV000913852 likely benign Cardiomyopathy 2018-04-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000994310 SCV001147764 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000994310 SCV001791572 likely benign not provided 2020-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395359 SCV002673783 likely benign Cardiovascular phenotype 2019-10-15 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.

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