ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2718+26A>G

gnomAD frequency: 0.71570  dbSNP: rs2618702
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243377 SCV000306049 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830197 SCV000971932 benign not provided 2018-06-18 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 RCV001795430 SCV002032999 benign Arrhythmogenic right ventricular dysplasia 2 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001843020 SCV002033000 benign Cardiac arrhythmia 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795431 SCV002033001 benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-11-07 criteria provided, single submitter clinical testing

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