ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.96C>T (p.His32=)

gnomAD frequency: 0.00022  dbSNP: rs368482949
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247542 SCV000317003 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058478 SCV002358046 likely benign Acrocallosal syndrome 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884438 SCV004699323 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing KIF7: BP4, BP7

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.