ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile)

gnomAD frequency: 0.01447  dbSNP: rs61731383
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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) RCV000081045 SCV000112952 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081045 SCV000192855 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081045 SCV000310299 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002311607 SCV000846483 benign Inborn genetic diseases 2016-04-18 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 RCV000870865 SCV001012422 benign Rubinstein-Taybi syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001675608 SCV001892592 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
ITMI RCV000081045 SCV000084751 not provided not specified 2013-09-19 no assertion provided reference population

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