Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166082 | SCV000216845 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-16 | 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 | RCV000548375 | SCV000628514 | likely benign | Neurofibromatosis, type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000615625 | SCV000727884 | likely benign | not specified | 2018-02-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Sema4, |
RCV000166082 | SCV002527505 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-19 | criteria provided, single submitter | curation | |
Ce |
RCV002262762 | SCV002545909 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | NF1: BP4, BP7 |
Genome- |
RCV000548375 | SCV002560658 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492667 | SCV002800442 | likely benign | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2021-11-24 | criteria provided, single submitter | clinical testing |