ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1815G>A (p.Leu605=)

gnomAD frequency: 0.00398  dbSNP: rs78356534
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001172108 SCV000526198 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000560294 SCV000645935 benign Spastic ataxia 2 2025-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001172108 SCV001335057 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing KIF1C: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848773 SCV002105301 benign Hereditary spastic paraplegia 2021-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001172108 SCV005218003 likely benign not provided criteria provided, single submitter not provided

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