ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3225C>T (p.Ala1075=) (rs727505215)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000156712 SCV000514438 benign not specified 2016-06-07 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 RCV000537143 SCV000637550 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156712 SCV000206433 likely benign not specified 2014-07-24 criteria provided, single submitter clinical testing p.Ala1075Ala in exon 28 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.

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