ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) (rs199821105)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036739 SCV000514442 likely benign not specified 2017-01-07 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.
Illumina Clinical Services Laboratory,Illumina RCV000405365 SCV000356275 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304502 SCV000356276 likely benign Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000304502 SCV000760743 benign Catecholaminergic polymorphic ventricular tachycardia 2017-12-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036739 SCV000060394 likely benign not specified 2012-02-07 criteria provided, single submitter clinical testing Pro1356Pro in exon 31 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. This variant has been identified in 1/6652 Eu ropean American chromosomes by the NHLBI Exome Sequencing Project in a broad pop ulation (http://evs.gs.washington.edu/EVS). Pro1356Pro in exon 31 of RYR2 (alle le frequency = 1/6652) **

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