Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000557509 | SCV000628858 | likely benign | Neurofibromatosis, type 2 | 2025-01-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765631 | SCV000896956 | uncertain significance | Familial meningioma; Neurofibromatosis, type 2; SMARCB1-related schwannomatosis | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001012778 | SCV001173278 | benign | Hereditary cancer-predisposing syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Genome- |
RCV000557509 | SCV002044910 | uncertain significance | Neurofibromatosis, type 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000557509 | SCV004821922 | likely benign | Neurofibromatosis, type 2 | 2024-09-23 | criteria provided, single submitter | clinical testing |