ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) (rs370740528)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618292 SCV000738088 likely benign Cardiovascular phenotype 2017-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000127844 SCV000171426 benign not specified 2014-05-06 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 RCV000537642 SCV000637636 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-07-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000127844 SCV000710926 likely benign not specified 2016-08-11 criteria provided, single submitter clinical testing p.Ser3224Ser in exon 68 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 9/66684 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs370740528).

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