Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002539404 | SCV001036917 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895459 | SCV004709898 | likely benign | EP300-related condition | 2021-09-21 | 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). |