ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.2013C>T (p.Ser671=) (rs751050999)

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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 RCV000618835 SCV000736986 likely benign Cardiovascular phenotype 2016-06-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724606 SCV000225946 uncertain significance not provided 2015-02-13 criteria provided, single submitter clinical testing
Invitae RCV000459269 SCV000557118 likely benign Brugada syndrome 2017-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220049 SCV000270823 likely benign not specified 2015-05-07 criteria provided, single submitter clinical testing p.Ser671Ser in exon 13 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 1/66336 European chromosomes and 1/8598 East Asian chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org).

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