ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys)

dbSNP: rs398122369
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000074466 SCV000108482 pathogenic Complex cortical dysplasia with other brain malformations 7 2012-12-15 no assertion criteria provided literature only
GeneReviews RCV000074466 SCV000258993 not provided Complex cortical dysplasia with other brain malformations 7 no assertion provided literature only Congenital fibrosis of the extraocular muscles (CFEOM)
University of Washington Center for Mendelian Genomics, University of Washington RCV001291304 SCV001479776 likely pathogenic Lissencephaly no assertion criteria provided research

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