ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+6835C>T

gnomAD frequency: 0.00026  dbSNP: rs140733878
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
CeGaT Center for Human Genetics Tuebingen RCV000993906 SCV001147131 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing KIF1B: PP2, BP4, BS2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000993906 SCV002010965 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000993906 SCV001979122 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000993906 SCV001979809 likely benign not provided no assertion criteria provided 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.