ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.486G>A (p.Ala162=)

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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 RCV005102917 SCV005730025 benign Rubinstein-Taybi syndrome 2024-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958981 SCV004769075 likely benign CREBBP-related disorder 2024-01-03 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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