ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)

gnomAD frequency: 0.00004  dbSNP: rs750845399
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000341039 SCV000335683 uncertain significance not provided 2015-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487207 SCV002785795 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-09-20 criteria provided, single submitter clinical testing
Invitae RCV002521902 SCV003470103 benign Rubinstein-Taybi syndrome 2022-06-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003939977 SCV004749955 likely benign CREBBP-related disorder 2023-11-06 criteria provided, single submitter 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).
CeGaT Center for Human Genetics Tuebingen RCV000341039 SCV004811637 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CREBBP: BP4, BP7

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