ClinVar Miner

Submissions for variant NM_004522.3(KIF5C):c.278C>T (p.Thr93Ile)

dbSNP: rs2105091650
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001810351 SCV002056062 pathogenic not provided 2022-01-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, University of Leipzig Medical Center RCV004804254 SCV005423809 likely pathogenic Complex cortical dysplasia with other brain malformations 2 2024-12-12 criteria provided, single submitter clinical testing PS2_moderate, PM1, PM2, PP2, PP3

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