Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878531 | SCV001021452 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001655637 | SCV001871158 | likely benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001655637 | SCV004158140 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | ADAMTS2: BP4, BP7 |
Prevention |
RCV003955778 | SCV004774304 | likely benign | ADAMTS2-related condition | 2019-07-25 | 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, |
RCV000878531 | SCV002081898 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-02-01 | no assertion criteria provided | clinical testing |