ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)

dbSNP: rs587783461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145713 SCV000192831 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2013-02-08 criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000145713 SCV000999402 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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