Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111985 | SCV000299875 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Ambry Genetics | RCV002433545 | SCV002753892 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-04-08 | criteria provided, single submitter | clinical testing | The p.S1009* pathogenic mutation (also known as c.3026C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 3026. This changes the amino acid from a serine to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Revvity Omics, |
RCV003137588 | SCV003827359 | likely pathogenic | not provided | 2022-10-31 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000111985 | SCV000144614 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-03-02 | no assertion criteria provided | clinical testing |