ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.1629T>G (p.Ala543=)

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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 RCV000719701 SCV000850571 likely benign History of neurodevelopmental disorder 2017-03-29 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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