Total submissions: 12
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 3DMed Clinical Laboratory Inc | RCV000677855 | SCV000804015 | uncertain significance | Neoplasm of the breast | 2017-06-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000129740 | SCV000184546 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-13 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Other strong data supporting benign classification,in silico models in agreement (benign) |
| Color | RCV000129740 | SCV000910641 | benign | Hereditary cancer-predisposing syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV000436893 | SCV000591731 | likely benign | not specified | 2015-03-18 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000436893 | SCV000515841 | likely benign | not specified | 2017-06-02 | 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, |
RCV000294429 | SCV000383629 | likely benign | Fanconi anemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000197010 | SCV000383630 | likely benign | Hereditary breast and ovarian cancer syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Integrated Genetics/Laboratory Corporation of America | RCV000587492 | SCV000694513 | benign | not provided | 2016-06-22 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA2 c.1166C>A (p.Pro389Gln) variant involves the alteration of a non-conserved nucleotide. The variant is located outside of any known functional domain and 3/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant was found in 60/120896 control chromosomes (2 homozygotes), predominantly observed in the South Asians, a frequency of 0.0036399 (60/16484). This subpopulation frequency is about 5 times the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. The variant has been cited in 2 breast cancer patients without evidence of causality (i.e. co-segregation). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as Benign/Likely Benign. Taken together and based on the high allele frequency in the South Asian subpopulation in the ExAC database, this missense variant is classified as Benign. |
| Invitae | RCV000197010 | SCV000252603 | benign | Hereditary breast and ovarian cancer syndrome | 2017-12-25 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000436893 | SCV000600469 | likely benign | not specified | 2017-05-24 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000587492 | SCV000887749 | benign | not provided | 2018-06-27 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000082883 | SCV000114957 | benign | Breast-ovarian cancer, familial 2 | 2012-05-01 | no assertion criteria provided | clinical testing |