Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166622 | SCV000217426 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-31 | 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. |
Labcorp Genetics |
RCV000628783 | SCV000749689 | likely benign | Renal cell carcinoma | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001580462 | SCV001817553 | likely benign | not provided | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000166622 | SCV002532103 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-22 | criteria provided, single submitter | curation |