Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001471044 | SCV001675146 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938841 | SCV004749528 | likely benign | ADAMTS2-related disorder | 2019-06-27 | 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, |
RCV001471044 | SCV002084193 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-04-20 | no assertion criteria provided | clinical testing |