Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002545994 | SCV001091734 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001619864 | SCV001842469 | benign | not provided | 2019-09-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003903153 | SCV004718682 | likely benign | EP300-related condition | 2021-07-14 | 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). |