ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14415A>G (p.Lys4805=) (rs397516515)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036695 SCV000060350 likely benign not specified 2012-10-17 criteria provided, single submitter clinical testing Lys4805Lys in exon 100 of RYR2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Lys4805Lys in exon 100 of RYR2 (allele fre quency = n/a)
GeneDx RCV000036695 SCV000521603 likely benign not specified 2015-12-01 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 RCV000537728 SCV000637527 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-08-29 criteria provided, single submitter clinical testing
Color RCV001177345 SCV001341540 likely benign Cardiomyopathy 2019-03-11 criteria provided, single submitter clinical testing

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