ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)

gnomAD frequency: 0.00287  dbSNP: rs145733598
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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) RCV000120593 SCV000112946 benign not specified 2014-10-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120593 SCV000192844 benign not specified 2017-02-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000439802 SCV000511765 benign not provided 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311604 SCV000846467 benign Inborn genetic diseases 2016-07-11 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 RCV001088835 SCV001096603 benign Rubinstein-Taybi syndrome 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000439802 SCV001833355 benign not provided 2019-10-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19183483, 26243651)
CeGaT Center for Human Genetics Tuebingen RCV000439802 SCV004140983 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CREBBP: PP2, BS1
ITMI RCV000120593 SCV000084747 not provided not specified 2013-09-19 no assertion provided reference population

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