ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5508C>T (p.Asn1836=)

gnomAD frequency: 0.00004  dbSNP: rs777640285
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184528 SCV001350522 likely benign Cardiomyopathy 2019-01-11 criteria provided, single submitter clinical testing
Invitae RCV002529947 SCV001615196 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000639151 SCV002497003 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing RYR2: BP4, BP7
Ambry Genetics RCV002343259 SCV002651080 likely benign Cardiovascular phenotype 2021-07-22 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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