Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001400579 | SCV001602384 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001558958 | SCV001781005 | likely benign | not provided | 2021-03-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003963277 | SCV004778474 | likely benign | ADAMTS2-related disorder | 2023-07-21 | 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). |
Natera, |
RCV001400579 | SCV002084223 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2021-08-03 | no assertion criteria provided | clinical testing |