ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.1839T>C (p.Tyr613=) (rs130003)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716111 SCV000846945 benign History of neurodevelopmental disorder 2016-03-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145720 SCV000202578 benign not specified 2013-12-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145720 SCV000192839 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
Invitae RCV000528700 SCV000629365 benign Rubinstein-Taybi syndrome 1 2017-06-20 criteria provided, single submitter clinical testing

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