ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.4165A>G (p.Arg1389Gly) (rs794727401)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176558 SCV000228233 uncertain significance not provided 2015-02-04 criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory,Salisbury District Hospital RCV000856877 SCV000999460 uncertain significance Rubinstein-Taybi syndrome 1 2019-11-05 no assertion criteria provided clinical testing

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