ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4530G>A (p.Ala1510=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002900054 SCV003247261 likely benign Rubinstein-Taybi syndrome 2022-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584983 SCV005075297 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CREBBP: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003963384 SCV004781711 likely benign CREBBP-related disorder 2021-10-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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