ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3372G>A (p.Pro1124=)

gnomAD frequency: 0.00004  dbSNP: rs368017980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127829 SCV000171411 benign not specified 2014-03-11 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.
Ambry Genetics RCV000251560 SCV000318719 likely benign Cardiovascular phenotype 2020-01-10 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.
Invitae RCV002514690 SCV000637554 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777849 SCV000913851 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing

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