ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2191+7C>T

gnomAD frequency: 0.00011  dbSNP: rs371970440
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
Eurofins Ntd Llc (ga) RCV000596660 SCV000706038 uncertain significance not provided 2017-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854054 SCV002274020 likely benign Acrocallosal syndrome 2023-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476314 SCV002776997 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2022-01-18 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.