Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079485 | SCV000111365 | uncertain significance | not provided | 2013-11-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001415367 | SCV001617527 | likely benign | Renal cell carcinoma | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390233 | SCV002697097 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-03 | 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. |