ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1750+6_1750+8del

dbSNP: rs551276433
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875387 SCV001017704 likely benign Spastic ataxia 2 2023-12-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847098 SCV002105298 likely benign Hereditary spastic paraplegia 2019-02-01 criteria provided, single submitter clinical testing

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