ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)

gnomAD frequency: 0.00034  dbSNP: rs201981364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193462 SCV000247724 uncertain significance not specified 2014-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087528 SCV000761423 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000639842 SCV001144373 benign not provided 2019-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000639842 SCV001785609 likely benign not provided 2021-01-15 criteria provided, single submitter clinical testing

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