ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2626G>A (p.Gly876Arg)

gnomAD frequency: 0.00001  dbSNP: rs746552957
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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 RCV001418409 SCV001620637 likely benign Rubinstein-Taybi syndrome 2018-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743240 SCV005358347 likely benign CREBBP-related disorder 2024-08-23 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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