Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000131425 | SCV000186406 | likely benign | Hereditary cancer-predisposing syndrome | 2013-07-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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, |
RCV000131425 | SCV002528261 | benign | Hereditary cancer-predisposing syndrome | 2022-01-13 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV001699198 | SCV002549972 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149765 | SCV003837814 | likely benign | Breast and/or ovarian cancer | 2021-06-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001579687 | SCV001808147 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001699198 | SCV001917948 | benign | not specified | no assertion criteria provided | clinical testing |