ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2756G>A (p.Ser919Asn)

gnomAD frequency: 0.00004  dbSNP: rs141403873
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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 RCV000145952 SCV000193092 likely benign not specified 2014-05-19 criteria provided, single submitter clinical testing
GeneDx RCV001567218 SCV001790866 likely benign not provided 2020-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003638632 SCV004452426 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927426 SCV004746417 likely benign EP300-related disorder 2021-11-17 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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