ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.1618C>T (p.Pro540Ser) (rs148023511)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153119 SCV000202579 uncertain significance not provided 2013-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719668 SCV000850538 likely benign History of neurodevelopmental disorder 2017-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Does not segregate with disease in family study (genes with incomplete penetrance),Subpopulation frequency in support of benign classification
Fulgent Genetics,Fulgent Genetics RCV000764070 SCV000895024 uncertain significance Rubinstein-Taybi syndrome 1 2018-10-31 criteria provided, single submitter clinical testing

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