ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1188C>T (p.Val396=) (rs749683415)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617752 SCV000737575 likely benign Cardiovascular phenotype 2016-06-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000466783 SCV000557107 likely benign Brugada syndrome 2016-04-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214113 SCV000270821 likely benign not specified 2015-08-13 criteria provided, single submitter clinical testing p.Val396Val in exon 10 of SCN5A: 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 4/66648 of Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org).

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