ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.594C>T (p.Asn198=) (rs727504676)

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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 RCV000155944 SCV000205656 likely benign not specified 2013-08-14 criteria provided, single submitter clinical testing Asn198Asn in exon 9 of RYR2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Asn198Asn in exon 9 of RYR2 (allele frequency = n/a)
GeneDx RCV000155944 SCV000522937 likely benign not specified 2017-03-14 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.
Color RCV000778001 SCV000914109 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
Invitae RCV000863725 SCV001004434 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing

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