Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002515845 | SCV001034828 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000891041 | SCV001914777 | benign | not provided | 2019-04-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915199 | SCV004734616 | likely benign | EP300-related condition | 2021-07-26 | 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 | RCV000120720 | SCV000084883 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |