ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)

dbSNP: rs875989807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000211093 SCV003245661 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546459 SCV005041875 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing EP300: BS2
Center for Human Genetics, University of Leuven RCV000211093 SCV000268073 likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2015-01-01 flagged submission literature only
PreventionGenetics, part of Exact Sciences RCV003937797 SCV004748237 likely benign EP300-related disorder 2022-09-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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