ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=)

gnomAD frequency: 0.00002  dbSNP: rs146982102
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
Eurofins Ntd Llc (ga) RCV000724787 SCV000225894 uncertain significance not provided 2015-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000724787 SCV000720760 benign not provided 2019-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317004 SCV000850372 likely benign Inborn genetic diseases 2016-12-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001403653 SCV001605528 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-09-29 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.