ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.234C>A (p.Gly78=)

dbSNP: rs61744930
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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 RCV001455945 SCV001659716 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2025-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000969909 SCV001793460 likely benign not provided 2020-06-19 criteria provided, single submitter clinical testing

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