ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) (rs368980118)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154833 SCV000204515 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asn1734Asn in exon 28 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 2/7020 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Asn1734Asn in exon 28 of SCN5A (allele fre quency = 2/7020) **
Invitae RCV001083160 SCV000260244 likely benign Brugada syndrome 2020-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000154833 SCV000514556 benign not specified 2015-07-30 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.
Ambry Genetics RCV000620581 SCV000737308 likely benign Cardiovascular phenotype 2016-08-16 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154833 SCV000918188 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000206836 SCV001153857 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV001179553 SCV001344245 likely benign Arrhythmia 2018-10-22 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000154833 SCV001920238 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000206836 SCV001926249 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000206836 SCV001957619 likely benign not provided no assertion criteria provided clinical testing

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