ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.714G>A (p.Ser238=)

gnomAD frequency: 0.00005  dbSNP: rs368886383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093147 SCV001249984 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing KIF1C: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001312503 SCV001502959 benign Spastic ataxia 2 2023-04-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847154 SCV002105340 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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