Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000475234 | SCV000549269 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2024-03-11 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1784 of the BRCA1 protein (p.Val1784Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 409303). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Counsyl | RCV000662930 | SCV000785883 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-29 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005018782 | SCV005647117 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S | 2024-06-15 | criteria provided, single submitter | clinical testing | |
| Brotman Baty Institute, |
RCV000662930 | SCV001238606 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |