ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)

gnomAD frequency: 0.00019  dbSNP: rs566157997
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435562 SCV000514434 likely benign not specified 2017-07-13 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.
Invitae RCV002524792 SCV000637547 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771850 SCV000904568 likely benign Cardiomyopathy 2018-05-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000771850 SCV001333883 benign Cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436251 SCV002754307 likely benign Cardiovascular phenotype 2018-11-08 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000534604 SCV001740147 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000435562 SCV001924722 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000534604 SCV001929431 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000534604 SCV001952874 likely benign not provided no assertion criteria provided clinical testing

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