ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1038-5del

gnomAD frequency: 0.00001  dbSNP: rs886044976
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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 RCV000337111 SCV000346423 uncertain significance Charcot-Marie-Tooth disease type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390695 SCV000346424 uncertain significance Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278520 SCV000346425 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000337111 SCV001559090 likely benign Charcot-Marie-Tooth disease type 2 2024-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021331 SCV002665483 uncertain significance not specified 2024-01-16 criteria provided, single submitter clinical testing The c.1020-5delT intronic variant, located in intron 10 of the KIF1B gene, results from a deletion of one nucleotide within intron 10 of the KIF1B gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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