ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.2480C>T (p.Thr827Ile) (rs121908162)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198737 SCV000255011 likely benign Charcot-Marie-Tooth disease, type 2 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098679 SCV001255062 uncertain significance Neuroblastoma 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173590 SCV001336689 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000004923 SCV000025099 risk factor Neuroblastoma 1 2008-04-01 no assertion criteria provided literature only
Center of Medical Genetics and Primary Health Care RCV001269366 SCV001448707 likely benign Malignant tumor of breast 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.