ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer)

dbSNP: rs1596856390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000856866 SCV000999431 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV000856866 SCV004023315 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations no assertion criteria provided clinical testing

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