ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs)

dbSNP: rs1567309482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678969 SCV000805185 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2018-05-25 criteria provided, single submitter clinical testing

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