Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002621017 | SCV003510096 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973706 | SCV004787714 | likely benign | EP300-related disorder | 2022-02-02 | 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). |