Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000923179 | SCV001068643 | likely benign | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169318 | SCV003888409 | likely benign | Hereditary cancer-predisposing syndrome | 2022-12-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |