ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)

dbSNP: rs121434626
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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 RCV000010037 SCV002320825 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-01-01 criteria provided, single submitter clinical testing
OMIM RCV000010037 SCV000030258 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2001-05-01 no assertion criteria provided literature only

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