ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3132C>T (p.Ile1044=)

dbSNP: rs373045276
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972037 SCV001119727 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-01-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847117 SCV002104851 uncertain significance Hereditary spastic paraplegia 2018-11-01 criteria provided, single submitter clinical testing

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