Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703678 | SCV000521667 | uncertain significance | not provided | 2024-09-05 | 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. |
Labcorp Genetics |
RCV000865277 | SCV001006214 | likely benign | Koolen-de Vries syndrome | 2025-01-28 | criteria provided, single submitter | clinical testing |