Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074485 | SCV001240072 | uncertain significance | Retinal dystrophy | 2017-09-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001447707 | SCV001650779 | likely benign | not provided | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928690 | SCV004738158 | likely benign | ABCA4-related condition | 2019-09-10 | 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). |