ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1055A>T (p.Lys352Met) (rs1555162303)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622757 SCV000742242 likely pathogenic Inborn genetic diseases 2017-03-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767522 SCV000898137 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.1055A>T, (p.Lys352Met) variant has been reported as a variant of germline/unknown origin.

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