ClinVar Miner

Submissions for variant NM_006086.4(TUBB3):c.863A>C (p.Glu288Ala)

dbSNP: rs2030417656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198782 SCV001369777 likely pathogenic Complex cortical dysplasia with other brain malformations 1 2018-11-02 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: pm2,pp3,pm5.

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