ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3423-15del

gnomAD frequency: 0.03458  dbSNP: rs3215996
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283128 SCV000346674 likely benign Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173395 SCV001336483 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001764256 SCV001472798 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001764256 SCV001988715 benign not provided 2021-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021339 SCV002611507 benign not specified 2020-07-28 criteria provided, single submitter clinical testing This alteration is classified as 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.

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