ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) (rs587784489)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658646 SCV000780428 uncertain significance not provided 2018-03-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147812 SCV000195285 likely pathogenic Lissencephaly 3 2016-04-19 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767459 SCV000898074 likely pathogenic Tubulinopathies 2018-07-01 criteria provided, single submitter literature only A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.521C>T, p.(Ala174Val) variant has been reported as a variant of germline/unknown origin.

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