Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000214094 | SCV000277322 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV000545840 | SCV000625468 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000214094 | SCV000685131 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-24 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001139364 | SCV001299507 | uncertain significance | Lynch syndrome 1 | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV001558615 | SCV001780605 | uncertain significance | not provided | 2021-06-11 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek 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.; Observed in individuals with colorectal or pancreatic cancer, but also in unaffected controls (Fujita 2020, Mizukami 2020); This variant is associated with the following publications: (PMID: 33309985, 32980694) |
Sema4, |
RCV000214094 | SCV002526750 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-07 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001558615 | SCV004221021 | likely benign | not provided | 2023-02-23 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998022 | SCV004831444 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |