ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3640+12C>T

gnomAD frequency: 0.00001  dbSNP: rs1403885809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196026 SCV001366455 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A 2019-02-21 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069277 SCV002440936 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-04-22 criteria provided, single submitter clinical testing

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