Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002540098 | SCV001034892 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001655642 | SCV001868689 | benign | not provided | 2019-05-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975628 | SCV004798430 | benign | EP300-related condition | 2022-01-10 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |