ClinVar Miner

Submissions for variant NM_007129.5(ZIC2):c.1059C>T (p.His353=)

gnomAD frequency: 0.07872  dbSNP: rs1831992
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) RCV000081471 SCV000113402 benign not specified 2013-07-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081471 SCV000311712 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001511783 SCV001719080 benign Holoprosencephaly 5 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001675610 SCV001895626 benign not provided 2015-03-03 criteria provided, single submitter 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.