ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+6753A>G

gnomAD frequency: 0.01960  dbSNP: rs41274462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001356065 SCV001159540 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356065 SCV001551125 uncertain significance not provided no assertion criteria provided clinical testing splicing N/AVariant was observed in a homozygous state in population databases more than expected for disease.Allele frequency is greater than expected for the disorder.A synonymous variant not located in a splice region.

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