ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)

dbSNP: rs2548370412
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287221 SCV002577442 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-09-09 criteria provided, single submitter clinical testing PVS1, PM2

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