ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1777+10C>T

gnomAD frequency: 0.26503  dbSNP: rs3753037
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154624 SCV000204298 benign not specified 2013-05-20 criteria provided, single submitter clinical testing The 1639+10C_T variant in KIF1B: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, has been identified in 30% (2553/8600) of Euro pean American chromosomes and 26% (820/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs3 753037).
PreventionGenetics, part of Exact Sciences RCV000154624 SCV000312353 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341720 SCV000346615 benign Neuroblastoma 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000305524 SCV000999941 benign Charcot-Marie-Tooth disease type 2 2025-02-04 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173392 SCV001336480 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001711423 SCV001940565 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730577 SCV001981054 benign Charcot-Marie-Tooth disease type 2A1 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730576 SCV001981055 benign Pheochromocytoma 2021-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000154624 SCV002703037 benign not specified 2020-07-28 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV001711423 SCV005286938 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000154624 SCV001742098 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000154624 SCV001922267 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000154624 SCV001958445 benign not specified no assertion criteria provided clinical testing

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