ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1195C>T (p.Leu399=) (rs369253900)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777977 SCV000914082 likely benign Arrhythmia 2018-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000041596 SCV000514535 benign not specified 2015-05-28 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 RCV000471313 SCV000557102 likely benign Brugada syndrome 2017-11-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041596 SCV000065292 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Leu399Leu in exon 10 of SCN5A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/3368 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS). Leu399Leu in exon 10 of SCN5A (allele freque ncy = 1/3368) **

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