ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)

gnomAD frequency: 0.00006  dbSNP: rs121908163
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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490400 SCV000267379 likely pathogenic Neuroblastoma 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV000865916 SCV001006943 likely benign Charcot-Marie-Tooth disease type 2 2024-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004018563 SCV002613898 likely benign not specified 2022-01-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
OMIM RCV000004924 SCV000025100 risk factor Neuroblastoma, susceptibility to, 1 2008-04-01 no assertion criteria provided literature only

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.