ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.895A>G (p.Ser299Gly) (rs149961222)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718692 SCV000849556 likely benign History of neurodevelopmental disorder 2017-05-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
ITMI RCV000120602 SCV000084760 not provided not specified 2013-09-19 no assertion provided reference population

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