Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000512972 | SCV000608804 | uncertain significance | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | GUCY2D: PP2 |
Labcorp Genetics |
RCV001082983 | SCV001020834 | likely benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Department of Clinical Genetics, |
RCV000787615 | SCV000926599 | uncertain significance | Progressive cone dystrophy (without rod involvement) | 2018-04-01 | no assertion criteria provided | research | |
Prevention |
RCV003915422 | SCV004730628 | likely benign | GUCY2D-related disorder | 2022-05-15 | 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). |