ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.6510A>C (p.Gln2170His) (rs142545779)

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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 RCV000145779 SCV000192912 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145779 SCV000229448 benign not specified 2015-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719556 SCV000850425 likely benign History of neurodevelopmental disorder 2017-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other data supporting benign classification
Invitae RCV000864419 SCV001005217 benign not provided 2019-02-13 criteria provided, single submitter clinical testing

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