ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4209A>G (p.Ala1403=) (rs727505126)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639150 SCV000760715 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-09-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156583 SCV000206302 likely benign not specified 2014-05-22 criteria provided, single submitter clinical testing Ala1403Ala in exon 32 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.

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