ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.478A>C (p.Arg160=)

gnomAD frequency: 0.00030  dbSNP: rs201204772
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
GeneDx RCV001698030 SCV000726177 benign not provided 2020-03-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000609105 SCV000856036 likely benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000954349 SCV001100977 benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498952 SCV002805124 likely benign Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2021-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945523 SCV004762323 likely benign DCDC2-related disorder 2019-11-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.