Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001084169 | SCV000289793 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001281725 | SCV000296460 | uncertain significance | not provided | 2020-01-03 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000421135 | SCV000531311 | likely benign | not specified | 2017-09-25 | 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. |
| Color Diagnostics, |
RCV000581043 | SCV000683157 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-23 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000421135 | SCV000699115 | uncertain significance | not specified | 2022-03-24 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.4185+10G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.3e-05 in 237410 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4185+10G>A has been reported in the literature in patients from hereditary breast/ovarian cancer families who underwent clinical BRCA1 screening (Judkins_2005). The report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=1), likely benign (n=3) and benign (n=1). Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |
| Counsyl | RCV000083048 | SCV000784871 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-01-18 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000083048 | SCV000115122 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-09-16 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000083048 | SCV000145008 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2010-12-17 | no assertion criteria provided | clinical testing |