ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6406A>G (p.Met2136Val)

gnomAD frequency: 0.00007  dbSNP: rs372874467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577747 SCV001805186 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002573241 SCV002126166 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910904 SCV004719570 likely benign EP300-related disorder 2022-01-20 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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