ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1165+4G>A

gnomAD frequency: 0.00449  dbSNP: rs192489748
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514056 SCV000609689 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing
Invitae RCV001080394 SCV000645930 benign Spastic ataxia 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000514056 SCV000722390 likely benign not provided 2020-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514056 SCV000780555 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KIF1C: BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848880 SCV002105284 uncertain significance Hereditary spastic paraplegia 2020-09-04 criteria provided, single submitter clinical testing

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