ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3370-5_3370-4del

dbSNP: rs75459669
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175314 SCV000226783 benign not specified 2014-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313041 SCV000847398 benign Inborn genetic diseases 2016-05-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Invitae RCV000864230 SCV001005003 benign Rubinstein-Taybi syndrome 2023-03-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500478 SCV002795312 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-04-04 criteria provided, single submitter clinical testing

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