Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000954657 | SCV001101303 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003926010 | SCV004739537 | likely benign | ADAMTS2-related condition | 2019-05-08 | 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, |
RCV000954657 | SCV002081910 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2021-01-25 | no assertion criteria provided | clinical testing |