ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.194A>T (p.His65Leu)

gnomAD frequency: 0.00025  dbSNP: rs112363898
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171074 SCV000050781 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171074 SCV000223638 likely benign not provided 2018-06-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362, 30847666)
Ambry Genetics RCV000619132 SCV000735352 likely benign Cardiovascular phenotype 2019-04-22 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001078793 SCV000767980 likely benign Long QT syndrome 10 2024-11-04 criteria provided, single submitter 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.