ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)

dbSNP: rs146887252
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175777 SCV000227334 likely benign not specified 2015-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878810 SCV001021782 likely benign Rubinstein-Taybi syndrome 2024-01-13 criteria provided, single submitter clinical testing
Mendelics RCV000989512 SCV001139925 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001753580 SCV001986962 benign not provided 2021-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372086 SCV002667926 benign Inborn genetic diseases 2020-05-04 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.
Fulgent Genetics, Fulgent Genetics RCV002485138 SCV002797405 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001753580 SCV005217375 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003937585 SCV004754506 likely benign CREBBP-related disorder 2021-07-16 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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