ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val)

gnomAD frequency: 0.00009  dbSNP: rs755065507
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000590663 SCV000567279 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590663 SCV000697612 benign not provided 2016-02-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776314 SCV000911635 likely benign Cardiomyopathy 2018-06-11 criteria provided, single submitter clinical testing
Invitae RCV002525799 SCV001002249 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395150 SCV002701750 likely benign Cardiovascular phenotype 2019-09-27 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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