Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528044 | SCV000628790 | benign | Neurofibromatosis, type 1 | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316522 | SCV000670497 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2016-10-17 | 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. |
Sema4, |
RCV000567472 | SCV002528110 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-04 | criteria provided, single submitter | curation | |
Genome- |
RCV000528044 | SCV002561302 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497072 | SCV002804609 | likely benign | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2022-04-08 | criteria provided, single submitter | clinical testing |