ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1])

dbSNP: rs778220523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000373463 SCV000332578 uncertain significance not provided 2015-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313996 SCV000848140 likely benign Inborn genetic diseases 2020-06-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003409403 SCV004108489 likely benign CREBBP-related disorder 2023-12-14 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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