ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) (rs61731383)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081045 SCV000112952 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081045 SCV000192855 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081045 SCV000310299 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000715653 SCV000846483 benign History of neurodevelopmental disorder 2016-04-18 criteria provided, single submitter clinical testing
Invitae RCV000870865 SCV001012422 benign Rubinstein-Taybi syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000081045 SCV000084751 not provided not specified 2013-09-19 no assertion provided reference population

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