ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5686T>C (p.Ser1896Pro) (rs587783504)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145768 SCV000192896 uncertain significance Rubinstein-Taybi syndrome 1 2014-01-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177560 SCV000229446 uncertain significance not provided 2015-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000177560 SCV000968604 likely benign not provided 2018-05-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000177560 SCV001019370 likely benign not provided 2018-05-08 criteria provided, single submitter clinical testing

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