Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000216148 | SCV000273281 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-06 | 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. |
Invitae | RCV001082820 | SCV000628709 | likely benign | Neurofibromatosis, type 1 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000553445 | SCV001829259 | likely benign | not provided | 2019-11-22 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000216148 | SCV002527655 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-09 | criteria provided, single submitter | curation | |
Genome- |
RCV001082820 | SCV002561209 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500722 | SCV002804297 | likely benign | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2022-05-23 | criteria provided, single submitter | clinical testing |