ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14808+3A>G

gnomAD frequency: 0.00011  dbSNP: rs377491955
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002527803 SCV000637530 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-11-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177343 SCV001341538 benign Cardiomyopathy 2019-04-15 criteria provided, single submitter clinical testing
GeneDx RCV001550055 SCV001770326 likely benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395358 SCV002698846 likely benign Cardiovascular phenotype 2019-05-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Revvity Omics, Revvity RCV001550055 SCV003820594 uncertain significance not provided 2019-12-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525965 SCV005039466 benign not specified 2024-03-12 criteria provided, single submitter clinical testing

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