ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3105C>T (p.Thr1035=)

gnomAD frequency: 0.00048  dbSNP: rs150498069
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192932 SCV000247295 uncertain significance not specified 2014-09-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000192932 SCV000858218 likely benign not specified 2017-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517933 SCV001021194 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001651055 SCV001864694 benign not provided 2020-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001651055 SCV001962445 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing EP300: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV003977511 SCV004798274 likely benign EP300-related disorder 2019-05-02 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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