Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001500009 | SCV001704786 | likely benign | Alpha thalassemia-X-linked intellectual disability syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004540454 | SCV004757645 | likely benign | ATRX-related disorder | 2019-02-26 | 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). |
Natera, |
RCV001500009 | SCV002089020 | likely benign | Alpha thalassemia-X-linked intellectual disability syndrome | 2021-06-28 | no assertion criteria provided | clinical testing |