Table 2.

DICER1 syndrome phenotypes grouped by specificity. For use with the following evidence codes: PS4, PS2, PP1, PP4, BS4.

Specificity	Phenotypes
High-specificity (much more likely than not to have germline P/LP DICER1)	Pleuropulmonary blastoma (PPB) (Including Type 1r) Pituitary blastoma Anaplastic renal sarcoma Ciliary body medulloepithelioma Cystic nephroma (<18 yrs) Embryonal rhabdomyosarcoma (Ovarian) Embryonal rhabdomyosarcoma (Cervix)
Moderate-specificity (more likely than not to have germline P/LP DICER1)	Differentiated thyroid cancer and/or Multinodular goiter (<18 years) Nasal chondromesenchymal hamartoma Ovarian Sertoli-Leydig cell tumors Ovarian sex-cord stromal tumor of mixed type (specifically, gynandroblastoma)
Low-specificity (less likely to have DICER1)	Non-parasitic liver cysts (childhood) Wilms tumor Pineoblastoma Cerebral sarcoma Lung cysts (<18 yrs)
**For PP4 use ONLY** Additional neoplasms of very low or undetermined specificity	Thyroid neoplasms (any age) Sarcomas Juvenile hamartomatous polyps Primitive neuroectodermal/neuroepithelial neoplasms Infantile cerebellar embryonal tumors Fetal lung adenocarcinoma