ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2320-4G>A

gnomAD frequency: 0.07832  dbSNP: rs12416681
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521618 SCV001730990 benign 2-aminoadipic 2-oxoadipic aciduria 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718869 SCV005323842 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001701189 SCV001921325 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001701189 SCV001962916 benign not specified 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.