ClinVar Miner

Submissions for variant NM_138555.4(KIF23):c.755T>A (p.Leu252His) (rs748016594)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454155 SCV000537920 likely pathogenic Microcephaly criteria provided, single submitter research KIF23 is predicted to interact with several genes previously associated with microcephaly

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