ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)

dbSNP: rs1567262537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV000754905 SCV000778560 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2018-07-01 criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000754905 SCV000999483 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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