ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala)

gnomAD frequency: 0.00183  dbSNP: rs144695853
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
Eurofins Ntd Llc (ga) RCV000729343 SCV000856995 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087029 SCV001093079 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2023-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000729343 SCV001911365 benign not provided 2018-12-18 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.