ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) (rs141982003)

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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 RCV000120600 SCV000701762 benign not specified 2016-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715960 SCV000846792 benign History of neurodevelopmental disorder 2016-06-06 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000877781 SCV001020567 benign Rubinstein-Taybi syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000120600 SCV000084758 not provided not specified 2013-09-19 no assertion provided reference population

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