ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=)

gnomAD frequency: 0.00004  dbSNP: rs745992971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876099 SCV001018623 likely benign Rubinstein-Taybi syndrome 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001593105 SCV001824671 likely benign not provided 2020-04-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501345 SCV002809208 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-02-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955737 SCV004772329 likely benign CREBBP-related disorder 2024-02-15 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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