ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)

gnomAD frequency: 0.00013  dbSNP: rs778915687
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989507 SCV001139920 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549727 SCV003461723 benign Rubinstein-Taybi syndrome 2024-05-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898006 SCV004713834 likely benign CREBBP-related disorder 2021-09-25 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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