ClinVar Miner

Submissions for variant NM_006086.4(TUBB3):c.446C>T (p.Thr149Met)

dbSNP: rs2030399551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332737 SCV001525137 uncertain significance Complex cortical dysplasia with other brain malformations 1 2020-09-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001760431 SCV001991180 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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; Has not been previously published as pathogenic or benign to our knowledge

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