ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=)

gnomAD frequency: 0.00223  dbSNP: rs200998860
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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) RCV000081064 SCV000112971 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081064 SCV000192905 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311614 SCV000847233 likely benign Inborn genetic diseases 2016-07-22 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000871303 SCV001012930 benign Rubinstein-Taybi syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001538278 SCV001755905 benign not provided 2018-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001538278 SCV002563305 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CREBBP: BP4, BP7, BS2

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