ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2613+5_2613+6insTTGC

dbSNP: rs747260754
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002529949 SCV000760718 benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183236 SCV001348916 benign Cardiomyopathy 2018-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001672908 SCV001888441 benign not provided 2016-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424415 SCV002740743 likely benign Cardiovascular phenotype 2022-03-01 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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