ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.865-24CT[2]

dbSNP: rs140674901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001538846 SCV001159628 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Paris Brain Institute, Inserm - ICM RCV001391468 SCV001451315 uncertain significance Spastic paraplegia criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518705 SCV001727448 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 RCV001538846 SCV001756553 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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