Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145959 | SCV000193101 | uncertain significance | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2014-05-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000145959 | SCV003250118 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430709 | SCV004147978 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | EP300: BP4, BS2 |
Prevention |
RCV003927427 | SCV004743199 | likely benign | EP300-related condition | 2021-09-20 | 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). |