Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875388 | SCV001017705 | likely benign | Multiple endocrine neoplasia type 4 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001016579 | SCV001177545 | benign | Hereditary cancer-predisposing syndrome | 2023-01-30 | 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. |
Sema4, |
RCV001016579 | SCV002535481 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-29 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478560 | SCV004220753 | likely benign | not provided | 2023-08-18 | criteria provided, single submitter | clinical testing |