ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser)

dbSNP: rs531539047
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002415608 SCV002724885 likely benign Inborn genetic diseases 2018-03-21 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 RCV002515837 SCV003005506 benign Rubinstein-Taybi syndrome 2023-11-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430674 SCV004140988 benign not provided 2022-04-01 criteria provided, single submitter clinical testing CREBBP: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003905145 SCV004718836 benign CREBBP-related condition 2019-06-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000120613 SCV000084774 not provided not specified 2013-09-19 no assertion provided reference population

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