Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001815235 | SCV002064110 | likely benign | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515847 | SCV003472643 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003894961 | SCV004714551 | likely benign | EP300-related condition | 2021-09-10 | 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 | RCV000120722 | SCV000084885 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |