ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4540C>T (p.Arg1514Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Immunology and Genetics Kaiserslautern RCV004771586 SCV005382170 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2024-09-13 criteria provided, single submitter clinical testing ACMG Criteria: PM2_P, PP3; Variant was found in heterozygous state

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