ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1782G>C (p.Thr594=)

gnomAD frequency: 0.00013  dbSNP: rs17002307
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145949 SCV000193088 likely benign not specified 2016-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514811 SCV001053072 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001541272 SCV001759249 benign not provided 2020-03-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975146 SCV004787424 likely benign EP300-related disorder 2019-04-29 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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