Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001566899 | SCV001790487 | uncertain significance | not provided | 2019-07-18 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
| Labcorp Genetics |
RCV001866004 | SCV002304208 | likely benign | Multiple endocrine neoplasia, type 2 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002414269 | SCV002675461 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-24 | criteria provided, single submitter | clinical testing | The c.1264-5C>A intronic variant results from a C to A substitution 5 nucleotides upstream from coding exon 7 in the RET gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002488386 | SCV002779324 | uncertain significance | Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A | 2022-05-06 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV001866004 | SCV004818790 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2023-03-23 | criteria provided, single submitter | clinical testing | This variant causes a C to A nucleotide substitution at the -5 position of intron 6 of the RET gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RET-related disorders 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. |