Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000256999 | SCV000324288 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-10-18 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Genetic Predisposition to Colorectal Cancer Group, |
RCV000416891 | SCV000262601 | likely pathogenic | Carcinoma of colon | 2015-11-01 | criteria provided, single submitter | clinical testing | Variant detected by whole exome sequencing in a family presenting aggregation mainly for colorectal cancer but also for breast cancer, uterine cancer and prostate cancer |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000256999 | SCV000327112 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580499 | SCV000683663 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-02-23 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in 1 individual affected with colorectal cancer with a family history of BRCA2-related cancers (PMID: 27165003). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Mendelics | RCV000256999 | SCV001139098 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2024-03-27 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001781615 | SCV002023585 | pathogenic | not provided | 2021-09-21 | criteria provided, single submitter | clinical testing |