Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003651955 | SCV000647340 | likely benign | Familial adenomatous polyposis 1 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704678 | SCV000729872 | likely benign | not provided | 2020-12-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; No data available from control populations to assess the frequency of this variant |
Color Diagnostics, |
RCV001183244 | SCV001348925 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-14 | criteria provided, single submitter | clinical testing | This variant, also known as NM_001127511.3:c.-126G>T, is located in the 5' untranslated region of an alternative transcript of the APC gene. To our knowledge, RNA expression studies have not been reported 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. |