Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000198707 | SCV000252744 | benign | Renal cell carcinoma | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001719886 | SCV000530562 | likely benign | not provided | 2021-05-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327) |
Ambry Genetics | RCV000563116 | SCV000664634 | likely benign | Hereditary cancer-predisposing syndrome | 2015-05-28 | 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. |
Sema4, |
RCV000563116 | SCV002532152 | benign | Hereditary cancer-predisposing syndrome | 2020-08-06 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003315760 | SCV004015849 | benign | Papillary renal cell carcinoma type 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121341 | SCV000085516 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Genetic Services Laboratory, |
RCV000121341 | SCV003839710 | likely benign | not specified | 2022-05-12 | no assertion criteria provided | clinical testing |