ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.702G>C (p.Thr234=)

dbSNP: rs150944204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848515 SCV002105339 uncertain significance Hereditary spastic paraplegia 2021-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003583200 SCV004284129 likely benign Spastic ataxia 2 2023-09-08 criteria provided, single submitter clinical testing

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