Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228445 | SCV001400845 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2019-10-16 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant, c.1894_1899del, results in the deletion of 2 amino acids of the RET protein (p.Glu632_Leu633del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 376313). This variant is not present in population databases (ExAC no frequency). |
Database of Curated Mutations |
RCV000438390 | SCV000505640 | likely pathogenic | Medullary thyroid carcinoma | 2015-07-14 | no assertion criteria provided | literature only |