ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1986C>T (p.His662=)

gnomAD frequency: 0.00453  dbSNP: rs75294107
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
Eurofins Ntd Llc (ga) RCV000178950 SCV000231132 benign not specified 2014-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000178950 SCV000312334 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000559781 SCV000652408 benign Nephronophthisis 14 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002054123 SCV002497911 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing ZNF423: BP4, BP7, BS2
Genome-Nilou Lab RCV000559781 SCV002514222 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002054123 SCV005216403 likely benign not provided criteria provided, single submitter not provided

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.