ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala)

gnomAD frequency: 0.00424  dbSNP: rs147571909
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
CeGaT Center for Human Genetics Tuebingen RCV000415736 SCV000493444 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DHTKD1: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV001085877 SCV001121697 likely benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000415736 SCV001470974 likely benign not provided 2023-09-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000415736 SCV005226919 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003970097 SCV004789778 likely benign DHTKD1-related disorder 2020-01-31 no assertion criteria provided 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.