Total submissions: 27
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112886 | SCV000244418 | benign | Breast-ovarian cancer, familial 2 | 2015-08-10 | reviewed by expert panel | curation | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000424 |
Invitae | RCV000043747 | SCV000071760 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000120306 | SCV000108596 | benign | not specified | 2017-07-25 | 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. |
Counsyl | RCV000112886 | SCV000154036 | likely benign | Breast-ovarian cancer, familial 2 | 2014-01-02 | criteria provided, single submitter | literature only | |
Ambry Genetics | RCV000162684 | SCV000213138 | benign | Hereditary cancer-predisposing syndrome | 2014-11-19 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Michigan Medical Genetics Laboratories, |
RCV000112886 | SCV000267742 | likely benign | Breast-ovarian cancer, familial 2 | 2016-04-21 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000112886 | SCV000383628 | likely benign | Breast-ovarian cancer, familial 2 | 2018-03-06 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Laboratory for Molecular Medicine, |
RCV000120306 | SCV000538482 | uncertain significance | 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: Multiple publications classify as VUS/not pathogenic; ExAC: 0.1% (69/66720) European chromosomes |
Cancer Genetics and Genomics Laboratory, |
RCV000120306 | SCV000586925 | benign | not specified | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000120306 | SCV000591730 | benign | not specified | 2013-01-04 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000120306 | SCV000593701 | likely benign | not specified | 2015-08-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000034428 | SCV000602838 | benign | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000162684 | SCV000683404 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000034428 | SCV000692768 | likely benign | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000112886 | SCV000743256 | benign | Breast-ovarian cancer, familial 2 | 2014-10-09 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000112886 | SCV000744403 | benign | Breast-ovarian cancer, familial 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000034428 | SCV000805647 | likely benign | not provided | 2018-01-17 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000112886 | SCV001138990 | likely benign | Breast-ovarian cancer, familial 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001112104 | SCV001269725 | uncertain significance | Fanconi anemia, complementation group D1 | 2018-03-06 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Biesecker Lab/Clinical Genomics Section, |
RCV000034428 | SCV000043196 | probably not pathogenic | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Likely benign. |
ITMI | RCV000120306 | SCV000084458 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Breast Cancer Information Core |
RCV000112886 | SCV000145823 | benign | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
CSER _CC_NCGL, |
RCV000148428 | SCV000190127 | uncertain significance | Breast neoplasm | 2014-06-01 | no assertion criteria provided | research | |
Research Molecular Genetics Laboratory, |
RCV000120306 | SCV000587580 | benign | not specified | 2014-01-31 | no assertion criteria provided | research | |
Diagnostic Laboratory, |
RCV000112886 | SCV000733224 | benign | Breast-ovarian cancer, familial 2 | no assertion criteria provided | clinical testing | ||
Mayo Clinic Genetic Testing Laboratories, |
RCV000034428 | SCV000778641 | likely benign | not provided | 2016-12-08 | no assertion criteria provided | clinical testing | |
Foulkes Cancer Genetics LDI, |
RCV000735441 | SCV000863577 | uncertain significance | Breast and/or ovarian cancer | 2001-08-21 | no assertion criteria provided | clinical testing |