ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.2484G>A (p.Ala828=)

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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 RCV002968005 SCV003287755 likely benign Spastic ataxia 2 2022-07-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418692 SCV004139466 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing KIF1C: BP4, BP7

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