ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.153C>T (p.Thr51=)

gnomAD frequency: 0.00277  dbSNP: rs147583562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437428 SCV000524119 likely benign not specified 2016-02-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000874000 SCV001016112 benign Spastic ataxia 2 2023-12-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848768 SCV002105293 likely benign Hereditary spastic paraplegia 2017-06-23 criteria provided, single submitter clinical testing

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