ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.447C>T (p.Ile149=)

gnomAD frequency: 0.00010  dbSNP: rs767820925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996457 SCV001151164 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549938 SCV003003132 likely benign Spastic ataxia 2 2024-11-04 criteria provided, single submitter clinical testing

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