ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr)

gnomAD frequency: 0.00019  dbSNP: rs202225861
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719881 SCV001947301 benign not provided 2020-09-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27378171, 15937088)
Invitae RCV002055329 SCV002458510 likely benign Rubinstein-Taybi syndrome 2023-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001719881 SCV004184530 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CREBBP: BP4
PreventionGenetics, part of Exact Sciences RCV003915197 SCV004737099 likely benign CREBBP-related condition 2022-03-24 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).
ITMI RCV000120610 SCV000084770 not provided not specified 2013-09-19 no assertion provided reference population

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