ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13044G>A (p.Glu4348=)

gnomAD frequency: 0.00003  dbSNP: rs559197657
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179704 SCV001344414 likely benign Cardiomyopathy 2019-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559770 SCV002449336 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379697 SCV002692514 likely benign Cardiovascular phenotype 2022-06-14 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.
All of Us Research Program, National Institutes of Health RCV004006596 SCV004818783 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-11-30 criteria provided, single submitter clinical testing

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