ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.639C>T (p.Asn213=)

gnomAD frequency: 0.00341  dbSNP: rs72544155
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127952 SCV000171539 benign not specified 2011-07-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000227384 SCV000291593 benign Long QT syndrome 10 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619290 SCV000735813 benign Cardiovascular phenotype 2016-08-16 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812112 SCV001157255 benign not provided 2021-10-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000227384 SCV002799096 benign Long QT syndrome 10 2021-07-27 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000127952 SCV001924799 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000127952 SCV001931916 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000127952 SCV001959276 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.