ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) (rs61731376)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081047 SCV000112954 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715581 SCV000846410 benign History of neurodevelopmental disorder 2016-04-18 criteria provided, single submitter clinical testing
Invitae RCV000870669 SCV001012194 benign Rubinstein-Taybi syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000081047 SCV000084753 not provided not specified 2013-09-19 no assertion provided reference population

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