ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2755G>A (p.Val919Met) (rs201079716)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154815 SCV000204496 uncertain significance not specified 2013-06-26 criteria provided, single submitter clinical testing The Val919Met variant in RYR2 has not been reported in individuals with cardiomy opathy, but has been identified in 3/8258 European American chromosomes by the N HLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs201079 716). Computational analyses (biochemical amino acid properties, conservation, A lignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an i mpact to the protein. Additional information is needed to fully assess the clin ical significance of this variant.
GeneDx RCV000154815 SCV000235082 likely benign not specified 2017-11-13 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 RCV000475461 SCV000541652 likely benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515405 SCV000611432 uncertain significance Arrhythmogenic right ventricular dysplasia, familial, 2; Catecholaminergic polymorphic ventricular tachycardia type 1 2017-05-23 criteria provided, single submitter clinical testing
Color RCV001186656 SCV001353188 likely benign Cardiomyopathy 2018-11-14 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256781 SCV001433225 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing

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