Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000167205 | SCV000218042 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-30 | 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 | RCV003584559 | SCV004269222 | likely benign | Familial melanoma | 2023-04-16 | criteria provided, single submitter | clinical testing | |
True Health Diagnostics | RCV000167205 | SCV000886681 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-12 | no assertion criteria provided | clinical testing |