Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204963 | SCV000259975 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2019-06-12 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the MSH6 gene (p.Ser1343*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acids of the MSH6 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 218079). 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. |
Ambry Genetics | RCV000563403 | SCV000662571 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-11-04 | criteria provided, single submitter | clinical testing | Insufficient evidence |
Color | RCV000563403 | SCV001350686 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-31 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000202283 | SCV000257298 | pathogenic | not provided | no assertion criteria provided | research |