Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001561302 | SCV001783873 | likely benign | not provided | 2020-10-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515841 | SCV002181467 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001561302 | SCV004147976 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | EP300: BP4 |
Prevention |
RCV003925180 | SCV004740123 | likely benign | EP300-related condition | 2023-08-18 | 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). |
ITMI | RCV000120711 | SCV000084873 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |