ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)

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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 RCV003315205 SCV004014829 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2023-06-26 criteria provided, single submitter clinical testing

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