Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000132423 | SCV000187516 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Eurofins Ntd Llc |
RCV000174992 | SCV000226408 | likely benign | not specified | 2014-09-24 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000174992 | SCV000539633 | likely benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1 report in HGMD; ExAC: 0.5% (358/66740) European chromosomes |
Invitae | RCV001083570 | SCV000555963 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000114852 | SCV000575343 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | MLH1: PM5, BS2 |
Genetic Services Laboratory, |
RCV000174992 | SCV000595803 | likely benign | not specified | 2017-04-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000132423 | SCV000689843 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-02 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000663286 | SCV000786528 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000663286 | SCV001136425 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000663286 | SCV001305810 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2019-06-10 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Sema4, |
RCV000132423 | SCV002528687 | benign | Hereditary cancer-predisposing syndrome | 2020-05-10 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000174992 | SCV002550866 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000132423 | SCV002819229 | benign | Hereditary cancer-predisposing syndrome | 2022-11-22 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149734 | SCV003838870 | likely benign | Breast and/or ovarian cancer | 2023-06-22 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000663286 | SCV004018161 | uncertain significance | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-03-15 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
All of Us Research Program, |
RCV003997118 | SCV004843225 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Harris Lab, |
RCV000114852 | SCV000148747 | not provided | not provided | no assertion provided | not provided | ||
Mayo Clinic Laboratories, |
RCV000174992 | SCV000257070 | uncertain significance | not specified | no assertion criteria provided | research | ||
Department of Pathology and Laboratory Medicine, |
RCV000114852 | SCV001553065 | uncertain significance | not provided | no assertion criteria provided | clinical testing |