Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000203934 | SCV000259232 | benign | Renal cell carcinoma | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563782 | SCV000673710 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-21 | 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. |
Gene |
RCV001699006 | SCV000730734 | likely benign | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26375439) |
Sema4, |
RCV000563782 | SCV002532185 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-04 | criteria provided, single submitter | curation | |
Clinical Genetics, |
RCV001699006 | SCV001922477 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001699006 | SCV001967124 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003917834 | SCV004735458 | likely benign | MET-related disorder | 2021-12-20 | 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). |