ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.5269G>A (p.Ala1757Thr)

gnomAD frequency: 0.00004  dbSNP: rs773017134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231128 SCV001403635 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497786 SCV002778324 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2021-08-05 criteria provided, single submitter clinical testing

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