ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.-1-9C>T

gnomAD frequency: 0.00083  dbSNP: rs200480574
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
Eurofins Ntd Llc (ga) RCV000295068 SCV000334955 uncertain significance not provided 2015-09-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369796 SCV000348284 uncertain significance Pyknodysostosis 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000369796 SCV004049739 uncertain significance Pyknodysostosis 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000369796 SCV001466718 benign Pyknodysostosis 2020-08-25 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.