ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+6753A>G

gnomAD frequency: 0.01960  dbSNP: rs41274462
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001356065 SCV001159540 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001356065 SCV005287016 benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356065 SCV001551125 uncertain significance not provided no assertion criteria provided clinical testing splicing N/AVariant was observed in a homozygous state in population databases more than expected for disease.Allele frequency is greater than expected for the disorder.A synonymous variant not located in a splice region.

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.