ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=)

gnomAD frequency: 0.99092  dbSNP: rs1615510
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522639 SCV001732221 benign 2-aminoadipic 2-oxoadipic aciduria 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658232 SCV001876692 benign Charcot-Marie-Tooth disease axonal type 2Q 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522639 SCV001876693 benign 2-aminoadipic 2-oxoadipic aciduria 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718879 SCV005323834 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699805 SCV001922676 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001699805 SCV001963114 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.