ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7359A>G (p.Glu2453=) (rs779456443)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544998 SCV000637608 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-05-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220827 SCV000270817 likely benign not specified 2015-07-09 criteria provided, single submitter clinical testing p.Glu2453Glu in exon 49 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. It has been identified in 1/7204 of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs779456443).

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