Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719881 | SCV001947301 | benign | not provided | 2020-09-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27378171, 15937088) |
Invitae | RCV002055329 | SCV002458510 | likely benign | Rubinstein-Taybi syndrome | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001719881 | SCV004184530 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | CREBBP: BP4 |
Prevention |
RCV003915197 | SCV004737099 | likely benign | CREBBP-related condition | 2022-03-24 | 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). |
ITMI | RCV000120610 | SCV000084770 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |