ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1143C>T (p.Ser381=) (rs368844286)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251332 SCV000320113 likely benign Cardiovascular phenotype 2015-07-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000036662 SCV000171401 benign not specified 2014-04-29 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 RCV000468183 SCV000554601 benign Catecholaminergic polymorphic ventricular tachycardia 2017-11-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036662 SCV000060317 likely benign not specified 2015-12-23 criteria provided, single submitter clinical testing p.Ser381Ser in exon 13 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. It has been identified in 0.3% (28/9792) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs368844286).
PreventionGenetics RCV000036662 SCV000306024 likely benign not specified criteria provided, single submitter clinical testing

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