ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.987A>G (p.Gln329=)

dbSNP: rs778596455
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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 RCV002205671 SCV002366830 likely benign Rubinstein-Taybi syndrome 2021-09-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893210 SCV004714483 likely benign CREBBP-related disorder 2024-02-07 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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