Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163837 | SCV000214423 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-17 | 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. |
Labcorp Genetics |
RCV000196883 | SCV000254687 | likely benign | Renal cell carcinoma | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000826579 | SCV000968167 | likely benign | not provided | 2021-10-26 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000826579 | SCV002011106 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163837 | SCV002532157 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-30 | criteria provided, single submitter | curation | |
Ce |
RCV000826579 | SCV004158936 | uncertain significance | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927541 | SCV004740000 | likely benign | MET-related disorder | 2022-03-11 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |