ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.6928C>T (p.Gln2310Ter)

dbSNP: rs745997770
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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 RCV000656088 SCV000598586 likely pathogenic Microcephaly 5, primary, autosomal recessive 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development

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