ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12720G>C (p.Thr4240=)

gnomAD frequency: 0.00001  dbSNP: rs774851947
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703744 SCV000522997 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Invitae RCV002521628 SCV001633625 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798805 SCV002042892 likely benign Cardiomyopathy 2021-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446686 SCV002682896 likely benign Cardiovascular phenotype 2021-03-23 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 RCV001798805 SCV004361523 likely benign Cardiomyopathy 2020-03-26 criteria provided, single submitter clinical testing

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