Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000542760 | SCV000628070 | likely benign | Multiple endocrine neoplasia, type 1 | 2023-05-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000611916 | SCV000726412 | likely benign | not specified | 2018-01-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002413456 | SCV002713155 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-17 | 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. |
All of Us Research Program, |
RCV000542760 | SCV004836522 | likely benign | Multiple endocrine neoplasia, type 1 | 2024-01-11 | criteria provided, single submitter | clinical testing |