ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3887G>A (p.Arg1296His)

gnomAD frequency: 0.00003  dbSNP: rs371517661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819865 SCV000960548 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
CeGaT Center for Human Genetics Tuebingen RCV001310788 SCV001500726 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing KIF1A: PM2, PP2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849120 SCV002104868 uncertain significance Hereditary spastic paraplegia 2017-03-29 criteria provided, single submitter clinical testing

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