Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001439878 | SCV001642778 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955958 | SCV004781806 | likely benign | ADAMTS2-related disorder | 2022-08-26 | 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, |
RCV001439878 | SCV002081905 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-05-01 | no assertion criteria provided | clinical testing |