Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000570718 | SCV000670283 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-16 | 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 | RCV000877090 | SCV001019765 | likely benign | Neurofibromatosis, type 1 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000877090 | SCV002561313 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Medical Genetics, |
RCV000877090 | SCV002567756 | likely benign | Neurofibromatosis, type 1 | 2022-08-17 | criteria provided, single submitter | clinical testing |