ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser)

dbSNP: rs146165770
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002515845 SCV001034828 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000891041 SCV001914777 benign not provided 2019-04-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000891041 SCV005206526 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000120720 SCV000084883 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003915199 SCV004734616 likely benign EP300-related disorder 2021-07-26 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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