ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3063+17C>T

gnomAD frequency: 0.00839  dbSNP: rs116040950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522767 SCV001732367 benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001655789 SCV001867185 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001655789 SCV002048703 benign not provided 2024-11-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655789 SCV005261929 likely benign not provided criteria provided, single submitter not provided

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