Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077057 | SCV000299537 | 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 | RCV002444545 | SCV002734307 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-06-23 | criteria provided, single submitter | clinical testing | The p.R365* pathogenic mutation (also known as c.1093A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 1093. This changes the amino acid from an arginine 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. |
Sharing Clinical Reports Project |
RCV000077057 | SCV000108854 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2008-09-05 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496935 | SCV000587105 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research |