Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204505 | SCV000261865 | likely benign | Fanconi anemia | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399766 | SCV002705759 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-21 | 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. |
Gene |
RCV003236789 | SCV003935377 | uncertain significance | not provided | 2022-12-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |