ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5814G>A (p.Thr1938=)

gnomAD frequency: 0.00258  dbSNP: rs112948044
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000294458 SCV000340348 benign not specified 2016-04-03 criteria provided, single submitter clinical testing
Invitae RCV002519261 SCV001021018 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001610783 SCV001839975 benign not provided 2019-06-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000294458 SCV002070867 benign not specified 2017-07-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001610783 SCV004153132 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing EP300: BP4, BP7, BS2

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