ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.739A>G (p.Met247Val)

gnomAD frequency: 0.00041  dbSNP: rs147583157
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000286737 SCV000332894 uncertain significance not provided 2015-07-20 criteria provided, single submitter clinical testing
Invitae RCV002521872 SCV001042557 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000286737 SCV001756116 benign not provided 2021-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909916 SCV004724207 likely benign EP300-related disorder 2021-10-04 criteria provided, single submitter 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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