ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) (rs2297881)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000372039 SCV000346670 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.
Invitae RCV000460624 SCV000559027 benign Charcot-Marie-Tooth disease, type 2 2020-11-27 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173388 SCV001336476 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001712006 SCV001940569 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
OMIM RCV001353066 SCV001548192 pathogenic Charcot-Marie-Tooth disease, type 2A1 2021-03-25 no assertion criteria provided literature only
Clinical Genetics,Academic Medical Center RCV001700033 SCV001923219 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700033 SCV001932138 benign not specified no assertion criteria provided clinical testing

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