Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075056 | SCV000106098 | likely benign | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Multifactorial likelihood analysis posterior probability 0.001-0.049 |
Counsyl | RCV000662467 | SCV000784957 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2017-10-09 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000662467 | SCV001136364 | benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000662467 | SCV001308676 | uncertain significance | Colorectal cancer, hereditary nonpolyposis, type 2 | 2017-04-27 | 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. |
Invitae | RCV002055075 | SCV002431746 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2021-06-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002258788 | SCV002528618 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-16 | criteria provided, single submitter | curation |