ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3423+49A>G

gnomAD frequency: 0.90629  dbSNP: rs2805390
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246268 SCV000306052 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830198 SCV000971933 benign not provided 2018-06-15 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.
Genome-Nilou Lab RCV001795433 SCV002033005 benign Arrhythmogenic right ventricular dysplasia 2 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001843021 SCV002033006 benign Cardiac arrhythmia 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795434 SCV002033008 benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830198 SCV005280729 benign not provided criteria provided, single submitter not provided

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