ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.44G>A (p.Arg15His)

gnomAD frequency: 0.00064  dbSNP: rs139769668
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713084 SCV000843652 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
Invitae RCV000713084 SCV001002572 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713084 SCV004147117 benign not provided 2022-04-01 criteria provided, single submitter clinical testing SCN3A: BS1, BS2

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.