Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000216680 | SCV000276212 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-05 | 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 |
RCV000532240 | SCV000650021 | uncertain significance | Fanconi anemia complementation group O | 2021-08-12 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000216680 | SCV001340508 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-27 | criteria provided, single submitter | clinical testing | This variant causes a duplication of the 3' end of exon 4 and the 5' end of intron 4 of the RAD51C gene. This variant creates a duplicate copy of the intron 4 splice donor site, however, the splicing impact if any has not been functionally tested. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Genome |
RCV001535621 | SCV001749647 | not provided | Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 06-12-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |