ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) (rs143669846)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204936 SCV000259870 benign Charcot-Marie-Tooth disease, type 2 2020-11-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345799 SCV000346738 likely benign Neuroblastoma 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174226 SCV001337353 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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