ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4185T>C (p.Ala1395=)

dbSNP: rs767900786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002710391 SCV003002458 likely benign Rubinstein-Taybi syndrome 2024-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744425 SCV005360616 likely benign CREBBP-related disorder 2023-11-27 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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