Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788371 | SCV000927456 | uncertain significance | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003631163 | SCV004477474 | likely benign | Supravalvar aortic stenosis | 2023-06-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535918 | SCV004747274 | likely benign | ELN-related disorder | 2021-07-26 | 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). |