ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.806-48G>T

gnomAD frequency: 0.06050  dbSNP: rs73440586
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252132 SCV000304645 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000252132 SCV000700302 benign not specified 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001610579 SCV001838449 benign not provided 2019-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610579 SCV005295368 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001833269 SCV002086280 benign Tay-Sachs disease 2018-04-12 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.