ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.6210C>A (p.Tyr2070Ter) (rs199821421)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000497205 SCV000588404 likely pathogenic Rubinstein-Taybi syndrome 1 2017-07-13 criteria provided, single submitter research
Ambry Genetics RCV000623929 SCV000740967 likely pathogenic Inborn genetic diseases 2015-10-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected

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