Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001084425 | SCV000554919 | likely benign | Neurofibromatosis, type 1 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318539 | SCV000666798 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2016-12-08 | 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. |
Prevention |
RCV000679411 | SCV000806314 | likely benign | not provided | 2017-09-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000679411 | SCV001794993 | likely benign | not provided | 2021-05-25 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000563107 | SCV002528092 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-14 | criteria provided, single submitter | curation | |
Genome- |
RCV001084425 | SCV002561285 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506143 | SCV002808661 | likely benign | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2022-05-13 | criteria provided, single submitter | clinical testing |