Total submissions: 21
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000119245 | SCV000245032 | benign | Breast-ovarian cancer, familial 2 | 2015-01-12 | reviewed by expert panel | curation | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.8902 (African), derived from 1000 genomes (2012-04-30). |
Counsyl | RCV000119245 | SCV000154035 | benign | Breast-ovarian cancer, familial 2 | 2014-01-02 | criteria provided, single submitter | literature only | High frequency in a 1kG or ESP population: 99.9 %. |
Gene |
RCV000152875 | SCV000167365 | benign | not specified | 2014-12-09 | 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. |
Ambry Genetics | RCV000132170 | SCV000187248 | 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, |
RCV000119245 | SCV000195985 | benign | Breast-ovarian cancer, familial 2 | 2014-11-03 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000152875 | SCV000202287 | benign | not specified | 2015-10-13 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000152875 | SCV000268809 | benign | not specified | 2016-03-18 | criteria provided, single submitter | clinical testing | This is a RefSeq error. The reference base (c.4563A) is the minor allele. This a llele (A) has been identified in 7.4% (758/10300) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2060 75) and thus meets criteria to be classified as benign. |
Prevention |
RCV000152875 | SCV000301764 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000119245 | SCV000383698 | benign | Breast-ovarian cancer, familial 2 | 2018-01-12 | 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 Clinical Services Laboratory, |
RCV000340564 | SCV000383699 | benign | Fanconi anemia, complementation group D1 | 2018-01-12 | 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. |
Integrated Genetics/Laboratory Corporation of America | RCV000257902 | SCV000494326 | benign | Hereditary breast and ovarian cancer syndrome | 2013-12-20 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000132170 | SCV000537315 | benign | Hereditary cancer-predisposing syndrome | 2015-03-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000461053 | SCV000541017 | benign | Familial cancer of breast | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Cancer Genetics and Genomics Laboratory, |
RCV000152875 | SCV000586951 | benign | not specified | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000152875 | SCV000591909 | benign | not specified | 2012-11-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001282425 | SCV000602737 | benign | none provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000257902 | SCV000635377 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000152875 | SCV000693637 | benign | not specified | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000119245 | SCV000743299 | benign | Breast-ovarian cancer, familial 2 | 2014-10-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000119245 | SCV000733258 | benign | Breast-ovarian cancer, familial 2 | no assertion criteria provided | clinical testing | ||
Mayo Clinic Genetic Testing Laboratories, |
RCV000656604 | SCV000778675 | benign | not provided | 2016-11-28 | no assertion criteria provided | clinical testing |