ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=)

gnomAD frequency: 0.00217  dbSNP: rs73491896
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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) RCV000081066 SCV000112973 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313776 SCV000849113 likely benign Inborn genetic diseases 2016-06-08 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 RCV001521307 SCV001730626 benign Rubinstein-Taybi syndrome 2022-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000872058 SCV001830820 benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477234 SCV002803457 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000872058 SCV004010448 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CREBBP: BP4, BP7, BS1

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