ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)

dbSNP: rs142545779
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081069 SCV000112976 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081069 SCV000192913 benign not specified 2021-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313777 SCV000847389 benign Inborn genetic diseases 2016-07-28 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 RCV000871284 SCV001012907 benign Rubinstein-Taybi syndrome 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001538690 SCV001756373 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490710 SCV002800555 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-01-29 criteria provided, single submitter clinical testing

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