ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1008G>A (p.Pro336=) (rs200285003)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618828 SCV000737819 likely benign Cardiovascular phenotype 2016-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000776193 SCV000911322 likely benign Arrhythmia 2018-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000127961 SCV000171549 benign not specified 2013-03-25 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 RCV000227498 SCV000291773 likely benign Brugada syndrome 2017-11-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000127961 SCV000966514 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro336Pro in Exon 09 of SCN5A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence. It has been identified in 0.1% (2/3412) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).

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