ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.186C>T (p.Leu62=)

gnomAD frequency: 0.00002  dbSNP: rs754375280
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221063 SCV000270809 likely benign not specified 2015-04-04 criteria provided, single submitter clinical testing p.Leu62Leu in exon 3 of RYR2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 3/8614 of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org).
Color Diagnostics, LLC DBA Color Health RCV001182283 SCV001347683 likely benign Cardiomyopathy 2020-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408927 SCV002723183 likely benign Cardiovascular phenotype 2020-08-05 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 RCV004804856 SCV005426565 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090066 SCV005775184 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-03-28 criteria provided, single submitter clinical testing

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