ClinVar Miner

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

dbSNP: rs1565627707
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Total submissions: 2
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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 due to TUBA1A mutation; Corpus callosum, agenesis of; Cerebellar vermis hypoplasia 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001258015 SCV001434829 likely pathogenic Congenital cerebellar hypoplasia no assertion criteria provided research

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