Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000279884 | SCV000438804 | likely benign | Rubinstein-Taybi syndrome due to CREBBP mutations | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003525895 | SCV001053348 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932377 | SCV004754556 | likely benign | EP300-related condition | 2021-07-21 | 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). |