ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.2187C>T (p.Pro729=)

gnomAD frequency: 0.00001  dbSNP: rs1200655580
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001479076 SCV001683368 likely benign Spastic ataxia 2 2020-08-04 criteria provided, single submitter clinical testing

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