ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)

dbSNP: rs780861754
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002534331 SCV000825228 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334324 SCV002618573 likely benign Cardiovascular phenotype 2020-07-21 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.
Fulgent Genetics, Fulgent Genetics RCV002485693 SCV002786931 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-07-23 criteria provided, single submitter clinical testing

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