ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) (rs112906840)

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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 RCV000081062 SCV000112969 benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081062 SCV000192902 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000081062 SCV000719927 benign not specified 2017-01-30 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 RCV000715481 SCV000846310 benign History of neurodevelopmental disorder 2016-04-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Other data supporting benign classification
Invitae RCV000871098 SCV001012702 benign Rubinstein-Taybi syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000081062 SCV000084763 not provided not specified 2013-09-19 no assertion provided reference population

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