Total submissions: 31
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077306 | SCV000244437 | benign | Breast-ovarian cancer, familial, susceptibility to, 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 = 0.000000315 |
Invitae | RCV000044213 | SCV000072226 | benign | Hereditary breast ovarian cancer syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000074526 | SCV000108611 | benign | not specified | 2016-12-09 | 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. |
Michigan Medical Genetics Laboratories, |
RCV000077306 | SCV000195976 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2014-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162770 | SCV000213247 | benign | Hereditary cancer-predisposing syndrome | 2014-08-06 | 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. |
Counsyl | RCV000077306 | SCV000220437 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2014-06-20 | criteria provided, single submitter | literature only | |
Genomic Diagnostic Laboratory, |
RCV000044213 | SCV000296853 | likely benign | Hereditary breast ovarian cancer syndrome | 2015-09-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000074526 | SCV000333319 | benign | not specified | 2015-07-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000077306 | SCV000383683 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000303693 | SCV000383684 | likely benign | Fanconi anemia complementation group D1 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Laboratory for Molecular Medicine, |
RCV000074526 | SCV000538458 | 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: ExAC: 1.4% (90/6610) Finnish chromosomes |
Department of Pathology and Molecular Medicine, |
RCV000074526 | SCV000588090 | benign | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000074526 | SCV000602860 | benign | not specified | 2017-02-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162770 | SCV000683564 | benign | Hereditary cancer-predisposing syndrome | 2015-08-05 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000077306 | SCV000744439 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770718 | SCV000902196 | likely benign | Breast and/or ovarian cancer | 2016-11-11 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000077306 | SCV001139065 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000034437 | SCV002010382 | benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000074526 | SCV002068086 | likely benign | not specified | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162770 | SCV002533804 | benign | Hereditary cancer-predisposing syndrome | 2021-02-01 | criteria provided, single submitter | curation | |
Ce |
RCV000034437 | SCV002545110 | benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | BRCA2: BP1, BP4, BS3:Supporting, BS2 |
Center for Genomic Medicine, |
RCV000074526 | SCV002550322 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003924892 | SCV004755586 | benign | BRCA2-related condition | 2019-04-16 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Biesecker Lab/Clinical Genomics Section, |
RCV000034437 | SCV000043205 | variant of unknown significance | not provided | 2012-07-13 | flagged submission | research | Converted during submission to Uncertain significance. |
Sharing Clinical Reports Project |
RCV000077306 | SCV000109103 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2008-10-19 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077306 | SCV000146251 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000074526 | SCV000591865 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000074526 | SCV001906087 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000074526 | SCV001927906 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000074526 | SCV001951099 | benign | not specified | no assertion criteria provided | clinical testing | ||
BRCAlab, |
RCV000077306 | SCV004243608 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2020-03-02 | no assertion criteria provided | clinical testing |