ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=)

gnomAD frequency: 0.01025  dbSNP: rs62636220
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081067 SCV000112974 benign not specified 2015-01-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081067 SCV000192910 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311615 SCV000846454 benign Inborn genetic diseases 2016-05-02 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000871688 SCV001013380 benign Rubinstein-Taybi syndrome 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001650917 SCV001871662 benign not provided 2018-08-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477235 SCV002799068 benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-07-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650917 SCV005217356 likely benign not provided criteria provided, single submitter not provided

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