ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro)

gnomAD frequency: 0.00108  dbSNP: rs146872023
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488299 SCV000575079 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KIF1C: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV001085446 SCV000645950 benign Spastic ataxia 2 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000488299 SCV000715022 likely benign not provided 2020-07-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848856 SCV002105344 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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