ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) (rs730880211)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183149 SCV000235565 likely benign not specified 2018-02-27 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 RCV001080833 SCV000291782 likely benign Brugada syndrome 2019-10-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726236 SCV000343113 uncertain significance not provided 2016-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618061 SCV000736007 likely benign Cardiovascular phenotype 2019-02-21 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Color RCV001191832 SCV001359745 uncertain significance Arrhythmia 2020-04-30 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157498 SCV000207243 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-03-19 no assertion criteria provided clinical testing

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