Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002537586 | SCV001050191 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-03-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001564505 | SCV001787682 | likely benign | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932900 | SCV004752467 | likely benign | EP300-related condition | 2021-06-17 | 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). |
Genetic Services Laboratory, |
RCV003151205 | SCV003839473 | likely benign | not specified | 2022-12-23 | no assertion criteria provided | clinical testing |