ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.2827G>A (p.Ala943Thr) (rs61753380)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715867 SCV000846699 benign History of neurodevelopmental disorder 2016-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081042 SCV000112949 benign not specified 2014-11-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081042 SCV000192853 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509267 SCV000607066 not provided Rubinstein-Taybi syndrome 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
ITMI RCV000081042 SCV000084750 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics RCV000081042 SCV000310298 benign not specified criteria provided, single submitter clinical testing

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