ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu)

gnomAD frequency: 0.00005  dbSNP: rs779578515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848482 SCV002105241 uncertain significance Hereditary spastic paraplegia 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772385 SCV004607523 benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-11-10 criteria provided, single submitter clinical testing

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