ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3227T>C (p.Leu1076Pro)

gnomAD frequency: 0.00001  dbSNP: rs757087817
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953091 SCV002217569 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-08-05 criteria provided, single submitter clinical testing

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