ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) (rs142545779)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081069 SCV000112976 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716548 SCV000847389 benign History of neurodevelopmental disorder 2016-07-28 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000871284 SCV001012907 benign Rubinstein-Taybi syndrome 2020-11-06 criteria provided, single submitter clinical testing
GeneDx RCV001538690 SCV001756373 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081069 SCV000192913 likely benign not specified no assertion criteria provided clinical testing

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