Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229917 | SCV000284547 | benign | Neurofibromatosis, type 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571402 | SCV000674132 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-04 | 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. |
Mendelics | RCV000229917 | SCV000839525 | benign | Neurofibromatosis, type 2 | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000229917 | SCV002045414 | likely benign | Neurofibromatosis, type 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571402 | SCV002528183 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-08 | criteria provided, single submitter | curation | |
ITMI | RCV000121644 | SCV000085842 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |