ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys)

dbSNP: rs1757271243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581992 SCV001818188 pathogenic not provided 2020-05-15 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32169460, 28677066, 23727838, 23361065)
Genetic Services Laboratory, University of Chicago RCV001581992 SCV002069083 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing
Mendelics RCV002246443 SCV002519925 pathogenic Complex cortical dysplasia with other brain malformations 7 2022-05-04 criteria provided, single submitter clinical testing

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