ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala) (rs200561798)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080346 SCV001009605 likely benign Charcot-Marie-Tooth disease, type 2 2020-04-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098766 SCV001255154 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174215 SCV001337342 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143821 SCV000188715 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Clinical Genetics,Academic Medical Center RCV000143821 SCV001917043 uncertain significance not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000143821 SCV001959828 uncertain significance not provided no assertion criteria provided clinical testing

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