ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) (rs143247685)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145728 SCV000192848 likely benign not specified 2014-05-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145728 SCV000202575 benign not specified 2013-12-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421582 SCV000510827 benign not provided 2016-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716234 SCV000847072 likely benign History of neurodevelopmental disorder 2018-04-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001087789 SCV001005517 benign Rubinstein-Taybi syndrome 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000022942 SCV000044233 pathogenic Rubinstein-Taybi syndrome 1 2010-09-01 no assertion criteria provided literature only
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252206 SCV001427957 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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