Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002327235 | SCV001186512 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-02-08 | 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. |
Invitae | RCV001440032 | SCV001642935 | likely benign | Neurofibromatosis, type 1 | 2023-08-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225786 | SCV002504559 | likely benign | not provided | 2020-12-29 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Genome- |
RCV001440032 | SCV002560851 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |