ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=)

gnomAD frequency: 0.00150  dbSNP: rs147066476
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200272 SCV000252831 benign Charcot-Marie-Tooth disease type 2 2024-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000402238 SCV000341538 benign not specified 2016-04-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366039 SCV000346721 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173613 SCV001336713 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001706179 SCV001891851 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000402238 SCV002638817 likely benign not specified 2020-08-10 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001706179 SCV003800305 benign not provided 2023-02-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706179 SCV004128368 benign not provided 2024-04-01 criteria provided, single submitter clinical testing KIF1B: BP4, BP7, BS1, BS2
Clinical Genetics, Academic Medical Center RCV000402238 SCV001923911 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706179 SCV001931075 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706179 SCV001966186 likely benign not provided no assertion criteria provided clinical testing

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