Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001397931 | SCV001599693 | likely benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001762668 | SCV001999301 | uncertain significance | not provided | 2019-10-23 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 12187427) |