ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.630G>A (p.Val210=) (rs193922727)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757740 SCV000886079 benign not provided 2017-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620296 SCV000735567 likely benign Cardiovascular phenotype 2016-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000771358 SCV000903650 likely benign Arrhythmia 2018-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000151806 SCV000171545 benign not specified 2015-03-17 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.
Integrated Genetics/Laboratory Corporation of America RCV000030445 SCV000053114 benign Cardiomyopathy 2015-06-12 no assertion criteria provided clinical testing
Invitae RCV000232434 SCV000291829 benign Brugada syndrome 2017-10-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151806 SCV000200272 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing p.Val210Val in exon 6 of SCN5A: 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 0.1% (42/41192) of European chromosomes from by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org/; dbSNP rs193922727).

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