ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=)

gnomAD frequency: 0.00001  dbSNP: rs370648599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194936 SCV000247717 uncertain significance not specified 2014-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000940273 SCV001086132 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-10-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847857 SCV002104842 uncertain significance Hereditary spastic paraplegia 2018-07-01 criteria provided, single submitter clinical testing

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