Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Affairs, |
RCV001003333 | SCV001161418 | likely pathogenic | Farber lipogranulomatosis | 2019-07-01 | criteria provided, single submitter | literature only | Variant c.314T>C is a variant of likely pathogenic. The patient was diagnosed with severe Farber disease characteristic of Type 1 Farber disease as described by Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK488189/). Histology of subcutaneous nodules showed the presence of foamy (lipid-filled) macrophages characteristic of Farber disease which is consistent with Farber disease. |