ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2145T>C (p.Phe715=)

gnomAD frequency: 0.00001  dbSNP: rs750344330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002540204 SCV001045156 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895490 SCV004709966 likely benign EP300-related condition 2021-11-18 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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