ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2544C>T (p.Arg848=)

gnomAD frequency: 0.00003  dbSNP: rs748097250
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427779 SCV000515977 likely benign not specified 2017-07-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001188438 SCV001355497 likely benign Cardiomyopathy 2019-05-16 criteria provided, single submitter clinical testing
Invitae RCV002524830 SCV002285547 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429371 SCV002742489 likely benign Cardiovascular phenotype 2021-07-07 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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