ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.2103G>A (p.Pro701=) (rs564847999)

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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 RCV000621128 SCV000737314 likely benign Cardiovascular phenotype 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000771852 SCV000904570 likely benign Arrhythmia 2018-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000837471 SCV000979326 likely benign not provided 2018-03-20 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 RCV000538953 SCV000637101 likely benign Brugada syndrome 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214379 SCV000270824 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing p.Pro701Pro in exon 14 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 20/120754 pan eth nic chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs564847999).

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