Total submissions: 37
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000113122 | SCV000245025 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-01-12 | reviewed by expert panel | curation | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1049 (Asian), 0.03049 (African), 0.03694 (European), derived from 1000 genomes (2012-04-30). |
Counsyl | RCV000113122 | SCV000154057 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2014-01-02 | criteria provided, single submitter | literature only | High frequency in a 1kG or ESP population: 3.7 %. |
Gene |
RCV000120317 | SCV000167351 | benign | not specified | 2013-09-27 | 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. |
Ambry Genetics | RCV000130999 | SCV000185923 | 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: 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. |
Michigan Medical Genetics Laboratories, |
RCV000113122 | SCV000195973 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2014-11-03 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000120317 | SCV000202282 | benign | not specified | 2016-05-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000130999 | SCV000292097 | benign | Hereditary cancer-predisposing syndrome | 2015-03-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000120317 | SCV000301760 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000113122 | SCV000383667 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2018-01-13 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000377822 | SCV000383668 | benign | Fanconi anemia complementation group D1 | 2018-01-13 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000320859 | SCV000494357 | benign | Hereditary breast ovarian cancer syndrome | 2014-01-13 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000034436 | SCV000511281 | benign | not provided | 2016-07-22 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000471695 | SCV000541030 | benign | Familial cancer of breast | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477054 | SCV000575744 | benign | Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 | 2022-04-28 | criteria provided, single submitter | clinical testing | |
Cancer Genetics and Genomics Laboratory, |
RCV000120317 | SCV000586938 | benign | not specified | 2017-04-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000034436 | SCV000602762 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000120317 | SCV000693634 | benign | not specified | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000113122 | SCV000743280 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2014-10-09 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000113122 | SCV000744434 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Center for Medical Genomics, |
RCV000768558 | SCV000899229 | benign | Breast carcinoma | 2019-04-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000320859 | SCV001000607 | benign | Hereditary breast ovarian cancer syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
National Health Laboratory Service, |
RCV000320859 | SCV002026085 | benign | Hereditary breast ovarian cancer syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Green |
RCV000113122 | SCV002097325 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | criteria provided, single submitter | clinical testing | ||
Genetics Program, |
RCV000320859 | SCV002515262 | benign | Hereditary breast ovarian cancer syndrome | 2021-11-01 | criteria provided, single submitter | research | |
Center for Genomic Medicine, |
RCV000120317 | SCV002550317 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000113122 | SCV004016821 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000113122 | SCV004845091 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000034436 | SCV005236047 | benign | not provided | criteria provided, single submitter | not provided | ||
Biesecker Lab/Clinical Genomics Section, |
RCV000034436 | SCV000043204 | no known pathogenicity | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Benign. |
ITMI | RCV000120317 | SCV000084469 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Breast Cancer Information Core |
RCV000113122 | SCV000146152 | not provided | Breast-ovarian cancer, familial, susceptibility to, 2 | no assertion provided | clinical testing | ||
Sharing Clinical Reports Project |
RCV000113122 | SCV000189302 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2011-03-15 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000113122 | SCV000733243 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | no assertion criteria provided | clinical testing | ||
Mayo Clinic Laboratories, |
RCV000034436 | SCV000778659 | benign | not provided | 2017-03-06 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000120317 | SCV001551813 | benign | not specified | no assertion criteria provided | clinical testing | #N/A | |
Clinical Genetics Laboratory, |
RCV000120317 | SCV001905967 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000120317 | SCV001955672 | benign | not specified | no assertion criteria provided | clinical testing |