ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13734G>A (p.Leu4578=)

gnomAD frequency: 0.00001  dbSNP: rs1268914442
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001805563 SCV002053196 likely benign Cardiomyopathy 2021-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489856 SCV002800261 likely benign 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
All of Us Research Program, National Institutes of Health RCV004009146 SCV004819915 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988759 SCV005497068 likely benign Cardiovascular phenotype 2024-11-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005095210 SCV005815310 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-06 criteria provided, single submitter clinical testing

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