ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) (rs75413741)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205456 SCV000260916 benign Charcot-Marie-Tooth disease, type 2 2020-11-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302658 SCV000346743 benign Neuroblastoma 2018-01-12 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594926 SCV000701880 benign not specified 2016-10-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282878 SCV001159372 benign none provided 2019-11-16 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173610 SCV001336710 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001530985 SCV001745906 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000594926 SCV001921377 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001530985 SCV001930098 likely benign not provided no assertion criteria provided clinical testing

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