ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.927C>T (p.Thr309=)

dbSNP: rs575297081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665118 SCV001874781 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094861 SCV005829687 likely benign Rubinstein-Taybi syndrome 2024-09-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956306 SCV004782682 likely benign CREBBP-related disorder 2022-03-31 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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