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 RCV000120601 SCV000719222 likely benign not specified 2017-05-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
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 2019-12-31 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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