ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1959G>A (p.Gln653=)

gnomAD frequency: 0.00002  dbSNP: rs759048539
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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 RCV001532295 SCV001747787 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847300 SCV002105307 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003745340 SCV004537465 likely benign Spastic ataxia 2 2022-11-06 criteria provided, single submitter clinical testing

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