ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.865A>G (p.Met289Val)

gnomAD frequency: 0.00258  dbSNP: rs2230111
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000120715 SCV000228959 likely benign not specified 2015-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120715 SCV000247299 benign not specified 2019-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517584 SCV000770218 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001530014 SCV001846823 benign not provided 2019-01-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30132219, 17299436)
CeGaT Center for Human Genetics Tuebingen RCV001530014 SCV004147983 benign not provided 2024-01-01 criteria provided, single submitter clinical testing EP300: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001530014 SCV005206511 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000120715 SCV000084877 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530014 SCV001744499 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001530014 SCV001798298 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003935150 SCV004748293 benign EP300-related disorder 2019-04-08 no assertion criteria provided 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).

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