Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000203188 | SCV000257705 | benign | Lynch syndrome | 2015-04-17 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000203188 | SCV000257707 | benign | Lynch syndrome | 2015-07-10 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000454744 | SCV000540065 | 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: Frequency |
Ambry Genetics | RCV000564416 | SCV000663426 | benign | Hereditary cancer-predisposing syndrome | 2017-05-18 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Color Diagnostics, |
RCV000564416 | SCV000691102 | benign | Hereditary cancer-predisposing syndrome | 2021-10-06 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000415703 | SCV000745197 | benign | Lynch syndrome 4 | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000415703 | SCV001137318 | benign | Lynch syndrome 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262162 | SCV001439935 | benign | Neoplasm of ovary | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001689733 | SCV001470605 | benign | not provided | 2022-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001520436 | SCV001729530 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001689733 | SCV001911041 | benign | not provided | 2017-12-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798676 | SCV002042815 | benign | Breast and/or ovarian cancer | 2019-05-02 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000454744 | SCV002568042 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV000415703 | SCV000493782 | uncertain significance | Lynch syndrome 4 | 2015-10-23 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000415703 | SCV000734566 | benign | Lynch syndrome 4 | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000415703 | SCV000745847 | likely benign | Lynch syndrome 4 | 2015-04-22 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000454744 | SCV001553089 | benign | not specified | no assertion criteria provided | clinical testing | GnomAD population frequency 44% | |
Laboratory of Diagnostic Genome Analysis, |
RCV000454744 | SCV001799646 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000454744 | SCV001905791 | benign | not specified | no assertion criteria provided | clinical testing |