ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) (rs1565627795)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767462 SCV000898077 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 female sex. The c.26T>C, p.(Val9Ala) variant has been reported as a variant of de novo origin. HPO-standardized clinical features were: Microcephaly (HP:0000252)

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