ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.402C>T (p.Asn134=)

gnomAD frequency: 0.00017  dbSNP: rs569704065
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489645 SCV001694193 likely benign Acrocallosal syndrome 2023-11-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003394079 SCV004130875 likely benign not provided 2023-07-01 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.