Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551810 | SCV000628451 | likely benign | Neurofibromatosis, type 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569387 | SCV000666650 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-18 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Genome- |
RCV000551810 | SCV002560564 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497069 | SCV002804184 | likely benign | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2022-04-21 | criteria provided, single submitter | clinical testing |