Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000634739 | SCV000756082 | likely benign | Ehlers-Danlos syndrome, type 4 | 2017-09-29 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000634739 | SCV004824842 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004544825 | SCV004774079 | likely benign | COL3A1-related disorder | 2022-05-16 | no assertion criteria provided | 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). |