Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002542079 | SCV001049416 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003958207 | SCV004773105 | likely benign | COL5A1-related condition | 2022-07-25 | 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). |