ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.363+9C>G

dbSNP: rs368803931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870481 SCV001011979 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001712818 SCV001944279 benign not provided 2018-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712818 SCV005261943 likely benign not provided criteria provided, single submitter not provided

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