Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000345929 | SCV000332168 | benign | not specified | 2015-06-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002518816 | SCV001100975 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001610771 | SCV001837469 | benign | not provided | 2019-09-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920038 | SCV004728676 | benign | EP300-related condition | 2021-06-17 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |