ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.7194A>G (p.Gly2398=)

gnomAD frequency: 0.00007  dbSNP: rs773968231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002066359 SCV002441686 likely benign Rubinstein-Taybi syndrome 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546588 SCV005042473 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing CREBBP: BP4
PreventionGenetics, part of Exact Sciences RCV003935916 SCV004754969 likely benign CREBBP-related disorder 2019-07-16 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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