ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.939T>C (p.Asp313=)

gnomAD frequency: 0.08570  dbSNP: rs3025702
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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) RCV000081075 SCV000112982 benign not specified 2013-06-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081075 SCV000192920 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081075 SCV000310310 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000543502 SCV000629381 benign Rubinstein-Taybi syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311619 SCV000846479 benign Inborn genetic diseases 2016-03-16 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.
GeneDx RCV001711242 SCV001943533 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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