Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002547251 | SCV001100964 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-08-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001615086 | SCV001835592 | benign | not provided | 2021-05-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003978262 | SCV004790099 | likely benign | EP300-related condition | 2021-06-24 | 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). |