ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly) (rs786205479)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171214 SCV000221411 likely pathogenic not provided no assertion criteria provided research
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767507 SCV000898122 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.596A>G, p.(Asp199Gly) variant has been reported as a variant of germline/unknown origin.

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