ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) (rs148781922)

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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 RCV000120601 SCV000334126 benign not specified 2015-08-13 criteria provided, single submitter clinical testing
GeneDx RCV001697046 SCV000719222 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Ambry Genetics RCV000718594 SCV000849458 likely benign History of neurodevelopmental disorder 2018-09-30 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification
Invitae RCV000871321 SCV001012954 benign Rubinstein-Taybi syndrome 2020-09-11 criteria provided, single submitter clinical testing
ITMI RCV000120601 SCV000084759 not provided not specified 2013-09-19 no assertion provided reference population

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