ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)

dbSNP: rs555109138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001618131 SCV001847253 benign not provided 2021-02-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV002539568 SCV003272222 benign Rubinstein-Taybi syndrome 2023-01-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001618131 SCV004235509 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980813 SCV004786348 likely benign CREBBP-related disorder 2022-04-11 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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