ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp)

gnomAD frequency: 0.00001  dbSNP: rs1468401006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001879848 SCV002111508 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-05-22 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252292 SCV001428044 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
New York Genome Center RCV001252292 SCV001431048 uncertain significance Intellectual disability 2019-11-19 no assertion criteria provided clinical testing

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