Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548170 | SCV000635886 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-11-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001185479 | SCV001351690 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001799677 | SCV002044261 | uncertain significance | not provided | 2021-06-23 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this variant does not alter splicing; Also known as 3248T>C; This variant is associated with the following publications: (PMID: 27535533) |
Ambry Genetics | RCV001185479 | SCV002607692 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-09 | 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. |