ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2925-3del

dbSNP: rs756643992
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 RCV002182599 SCV002349457 likely benign Charcot-Marie-Tooth disease type 2 2022-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045063 SCV002747308 uncertain significance not specified 2023-01-12 criteria provided, single submitter clinical testing The c.2787-3delT intronic variant is located 3 nucleotides upstream of coding exon 25 of the KIF1B gene. This variant results from a deletion of one nucleotide at position c.2787-3. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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.