ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)

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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 RCV002886192 SCV003245669 benign Rubinstein-Taybi syndrome 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936334 SCV004752057 likely benign CREBBP-related disorder 2023-11-01 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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