ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)

gnomAD frequency: 0.00004  dbSNP: rs572314710
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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173384 SCV001336472 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002559662 SCV003009063 likely benign Charcot-Marie-Tooth disease type 2 2023-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163380 SCV003861282 likely benign Hereditary cancer-predisposing syndrome 2023-02-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.