ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)

dbSNP: rs1596812306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV000856873 SCV002320794 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-01-01 criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000856873 SCV000999456 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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