Total submissions: 30
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000045642 | SCV000073655 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000120366 | SCV000202305 | likely benign | not specified | 2016-03-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000120366 | SCV000210674 | benign | not specified | 2016-09-16 | 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 | RCV000162603 | SCV000213027 | 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. |
Counsyl | RCV000114008 | SCV000220539 | benign | Breast-ovarian cancer, familial 2 | 2014-07-23 | criteria provided, single submitter | literature only | |
Vantari Genetics | RCV000162603 | SCV000267026 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-06 | criteria provided, single submitter | clinical testing | |
Michigan Medical Genetics Laboratories, |
RCV000114008 | SCV000267822 | benign | Breast-ovarian cancer, familial 2 | 2016-04-21 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000045642 | SCV000267849 | likely benign | Hereditary breast and ovarian cancer syndrome | 2016-04-25 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000114008 | SCV000383794 | 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. |
Integrated Genetics/Laboratory Corporation of America | RCV000045642 | SCV000494346 | benign | Hereditary breast and ovarian cancer syndrome | 2014-09-26 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000162603 | SCV000537411 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-07 | criteria provided, single submitter | clinical testing | |
Cancer Genetics and Genomics Laboratory, |
RCV000120366 | SCV000586985 | benign | not specified | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000120366 | SCV000592233 | benign | not specified | 2015-07-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000120366 | SCV000593733 | likely benign | not specified | 2017-03-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001282716 | SCV000602821 | benign | none provided | 2020-07-31 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000120366 | SCV000605776 | uncertain significance | not specified | 2016-12-21 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Lys2950Asn va riant in BRCA2 has been reported in at least 1 individual with BRCA2-associated cancer (Blay 2013). This variant has also been identified in 0.2% (21/11524) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs28897754). Computational prediction tools and conservation analysis suggest that the p.Lys2950Asn variant may impact the protein, though t his information is not predictive enough to determine pathogenicity. In summary, while the clinical significance of the p.Lys2950Asn variant is uncertain, its f requency suggests that it is more likely to be benign. |
Genome Diagnostics Laboratory, |
RCV000114008 | SCV000743354 | benign | Breast-ovarian cancer, familial 2 | 2014-10-09 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000114008 | SCV000744551 | benign | Breast-ovarian cancer, familial 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679194 | SCV000805787 | likely benign | not provided | 2017-03-27 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000045642 | SCV000838886 | likely benign | Hereditary breast and ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000114008 | SCV001139234 | likely benign | Breast-ovarian cancer, familial 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000679194 | SCV001148999 | likely benign | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001112820 | SCV001270519 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170977 | SCV001333637 | likely benign | Breast and/or ovarian cancer | 2018-05-17 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000114008 | SCV001368031 | likely benign | Breast-ovarian cancer, familial 2 | 2019-05-09 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: PP3,BP1,BP6. |
ITMI | RCV000120366 | SCV000084518 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Breast Cancer Information Core |
RCV000114008 | SCV000147473 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Sharing Clinical Reports Project |
RCV000114008 | SCV000189318 | benign | Breast-ovarian cancer, familial 2 | 2011-02-25 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000120366 | SCV000587973 | benign | not specified | 2014-01-31 | no assertion criteria provided | research | |
Diagnostic Laboratory, |
RCV000114008 | SCV000733326 | benign | Breast-ovarian cancer, familial 2 | no assertion criteria provided | clinical testing |