Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002547227 | SCV001098351 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-11-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000951900 | SCV001871159 | likely benign | not provided | 2020-12-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925948 | SCV004744305 | likely benign | EP300-related condition | 2021-11-09 | 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). |