ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys)

dbSNP: rs1554126886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503116 SCV000597726 likely pathogenic Complex cortical dysplasia with other brain malformations 7 2015-11-19 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001291305 SCV001479777 likely pathogenic Lissencephaly no assertion criteria provided research

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