ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3143-4del

dbSNP: rs757931697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175159 SCV000226595 benign not specified 2014-12-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297575 SCV000438850 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516662 SCV002398760 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975308 SCV005579102 likely benign Inborn genetic diseases 2024-07-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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