ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) (rs587784482)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147795 SCV000195266 likely pathogenic Lissencephaly 3 2013-02-28 criteria provided, single submitter clinical testing
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201372 SCV000239930 pathogenic Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767441 SCV000898056 pathogenic Tubulinopathies 2018-07-01 criteria provided, single submitter literature only A variant that is classified as pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.1148C>T, p.(Ala383Val) variant has been reported as a variant of germline/unknown origin.

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