ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.885G>A (p.Ser295=)

gnomAD frequency: 0.00117  dbSNP: rs148489739
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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 RCV000875693 SCV001018154 benign Spastic ataxia 2 2024-08-19 criteria provided, single submitter clinical testing
GeneDx RCV001547113 SCV001766743 likely benign not provided 2019-03-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847101 SCV002105346 likely benign Hereditary spastic paraplegia 2020-12-29 criteria provided, single submitter clinical testing

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