ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.2915C>T (p.Pro972Leu) (rs139896431)

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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 RCV000719527 SCV000850395 likely benign History of neurodevelopmental disorder 2017-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
ITMI RCV000120594 SCV000084749 not provided not specified 2013-09-19 no assertion provided reference population

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