ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5760G>C (p.Ala1920=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719706 SCV000850576 likely benign History of neurodevelopmental disorder 2017-04-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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