ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2871T>C (p.Ala957=)

dbSNP: rs771821687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000613615 SCV000731763 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing p.Ala957Ala in exon 25 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.
Invitae RCV002528787 SCV002466914 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-09-27 criteria provided, single submitter clinical testing

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