ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3294C>T (p.Ala1098=)

gnomAD frequency: 0.00001  dbSNP: rs773622667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618931 SCV000735884 likely benign Cardiovascular phenotype 2017-06-14 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.
Color Diagnostics, LLC DBA Color Health RCV001182936 SCV001348538 likely benign Cardiomyopathy 2018-11-09 criteria provided, single submitter clinical testing
Invitae RCV002531743 SCV003273856 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-01-01 criteria provided, single submitter clinical testing

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