Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000983924 | SCV001131973 | likely benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004726753 | SCV005333522 | uncertain significance | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17964524) |