Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000838531 | SCV000289420 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000614515 | SCV000712547 | uncertain significance | not specified | 2016-11-15 | criteria provided, single submitter | clinical testing | The p.Ile1794Met variant in POLE has not been previously reported in individuals with colorectal cancer but has been identified in 8/66456 of European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs368364666). Computational prediction tools and conservation analysis do n ot provide strong support for or against an impact to the protein. In summary, t he clinical significance of the p.Ile1794Met variant is uncertain. |
Fulgent Genetics, |
RCV000765048 | SCV000896245 | uncertain significance | Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000838531 | SCV000980401 | likely benign | not provided | 2018-03-29 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Sema4, |
RCV002257587 | SCV002536885 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-29 | criteria provided, single submitter | curation |