ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.190T>A (p.Tyr64Asn)

dbSNP: rs1556405129
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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 RCV000656086 SCV000598584 likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development

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