Total submissions: 10
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000225749 | SCV000073155 | likely benign | Hereditary breast ovarian cancer syndrome | 2025-02-04 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000679185 | SCV000210644 | likely benign | not provided | 2018-07-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24817641, 21702907, 21523855) |
| Ambry Genetics | RCV000164923 | SCV000215611 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
| Counsyl | RCV000031665 | SCV000488188 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-01-19 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000164923 | SCV000689030 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-31 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV000679185 | SCV000805757 | uncertain significance | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002265572 | SCV002547584 | likely benign | not specified | 2022-05-16 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.7096C>G (p.Leu2366Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250964 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.7096C>G has been reported in the literature (example, Hondow_2011). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no penetrant association of this variant and no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with a majority consensus as likely benign (n=4). Based on the evidence outlined above, the variant was classified as likely benign. |
| All of Us Research Program, |
RCV004803064 | SCV004844367 | likely benign | BRCA2-related cancer predisposition | 2024-04-16 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000031665 | SCV000054272 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2012-05-01 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000031665 | SCV000147021 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2002-05-29 | no assertion criteria provided | clinical testing |