Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002540085 | SCV001033509 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940650 | SCV004749574 | likely benign | EP300-related condition | 2022-06-03 | 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). |