ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn) (rs1565627707)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dobyns Lab,Seattle Children's Research Institute RCV000779654 SCV000916333 likely pathogenic Lissencephaly 3; Agenesis of corpus callosum; Cerebellar vermis hypoplasia 2019-02-18 no assertion criteria provided research

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