Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000167842 | SCV000073143 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000131678 | SCV000186714 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-14 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);No disease association in small case-control study;Other data supporting benign classification |
Gene |
RCV000120352 | SCV000210642 | likely benign | not specified | 2017-10-23 | 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. |
Illumina Clinical Services Laboratory, |
RCV000343881 | SCV000383756 | likely benign | Fanconi anemia, complementation group D1 | 2017-04-27 | 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. |
Illumina Clinical Services Laboratory, |
RCV000031663 | SCV000383757 | likely benign | Breast-ovarian cancer, familial 2 | 2017-04-27 | 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. |
Department of Pathology and Laboratory Medicine, |
RCV000120352 | SCV000592095 | benign | not specified | 2012-11-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000120352 | SCV000602839 | benign | not specified | 2016-12-05 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000587020 | SCV000695031 | benign | not provided | 2016-03-21 | criteria provided, single submitter | clinical testing | Variant Summary: The BRCA2 variant of interest causes a missense change involving a non-conserved nucleotide with 2/4 in silico programs predicting a "benign" outcome (SNPs&Go not captured here due to low reliability index), although these predictions have yet to be functionally assessed. The variant of interest was observed in a large, broad control population, ExAC with an allele frequency of 16/120976 (1/7561), predominantly in the East Asian cohort, 15/8648 (1/577), which significantly exceeds the maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333, therefore suggesting the variant of interest is a common polymorphism found in population(s) of East Asian origin. The variant of interest has been reported in affected individuals via publicatins, predominantly in those of Asian decent, although limited information is provided (i.e. lack of co-occurrence and co-segregation information being provided). The variant of interest has been reported by multiple reputable databases/clinical laboratories as "likely benign/benign." Additionally, the BIC database reports one individual with a pathogenic BRCA2 co-occurrence, c.1103C>A (p.Ser368Ter). Therefore, taking all lines of evidence into consideration, the variant of interest is classified as benign. |
Genome Diagnostics Laboratory, |
RCV000031663 | SCV000743328 | likely benign | Breast-ovarian cancer, familial 2 | 2014-10-09 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000031663 | SCV000744508 | likely benign | Breast-ovarian cancer, familial 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000587020 | SCV000889124 | benign | not provided | 2019-05-17 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000131678 | SCV000910634 | benign | Hereditary cancer-predisposing syndrome | 2015-12-02 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000031663 | SCV000054270 | benign | Breast-ovarian cancer, familial 2 | 2012-05-01 | no assertion criteria provided | clinical testing | |
ITMI | RCV000120352 | SCV000084504 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Breast Cancer Information Core |
RCV000031663 | SCV000147009 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Pathway Genomics | RCV000031663 | SCV000189909 | likely benign | Breast-ovarian cancer, familial 2 | 2014-07-24 | no assertion criteria provided | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000587020 | SCV000778702 | likely benign | not provided | 2017-02-20 | no assertion criteria provided | clinical testing |