ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.16233G>C (p.Val5411=)

gnomAD frequency: 0.00003  dbSNP: rs201830030
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001481965 SCV001686324 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-08-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438825 SCV004163639 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing DST: BP4, BP7

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.