Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003797724 | SCV004578245 | likely benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2023-06-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003893404 | SCV004714318 | likely benign | GUCY2D-related disorder | 2022-01-17 | 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). |