Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001477956 | SCV001682209 | likely benign | Neurofibromatosis, type 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002432336 | SCV002743436 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-02-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002495711 | SCV002800534 | likely benign | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2022-01-05 | criteria provided, single submitter | clinical testing |