Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001486153 | SCV001690605 | likely benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003442130 | SCV004170624 | uncertain significance | not provided | 2023-05-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |