ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5172C>A (p.Thr1724=)

gnomAD frequency: 0.00025  dbSNP: rs142330184
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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) RCV000593054 SCV000707348 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000593054 SCV001747339 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing EP300: BP4, BP7
GeneDx RCV000593054 SCV001900347 benign not provided 2019-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002520058 SCV002433456 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-11-10 criteria provided, single submitter clinical testing

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