Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000083024 | SCV000299683 | 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 | RCV000220934 | SCV000276010 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-05-27 | criteria provided, single submitter | clinical testing | The c.2001dupA (also known as c.2120dupA and p.Q667QFS*6) pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 2001, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000083024 | SCV000325210 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590409 | SCV000698906 | pathogenic | Hereditary breast ovarian cancer syndrome | 2016-02-12 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000083024 | SCV000115098 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-05-01 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000083024 | SCV000144271 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing |