Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000128953 | SCV000172831 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-13 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification |
| Breast Cancer Information Core |
RCV000031585 | SCV000146722 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-06-20 | no assertion criteria provided | clinical testing | |
| Color | RCV000128953 | SCV000903520 | benign | Hereditary cancer-predisposing syndrome | 2016-12-21 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000031585 | SCV000784831 | uncertain significance | Breast-ovarian cancer, familial 2 | 2017-01-04 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000439783 | SCV000512372 | likely benign | not specified | 2018-01-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Integrated Genetics/Laboratory Corporation of America | RCV000587267 | SCV000694914 | uncertain significance | not provided | 2016-05-20 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA2 c.5882G>A (p.Ser1961Asn) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index) (meets BP4 rule of ACMG guidelines). This variant is absent in 120970 control chromosomes. It has been reported in HBOC families without evidence of causality (i.e. co-segregation). Additionally, the variant was found in one individual who also carried a pathogenic variant BRCA1 c.3331_3334delCAAG (meets BP5 rule of ACMG guidelines), ruling out the variant as a primary cause of HBOC in the individual. Furthermore, multiple clinical diagnostic laboratories (2/3 labs in ClinVar) have classified this variant as benign/likely benign without evidence to independently evaluate. Taken together, the variant is currently classified as a VUS-possibly benign until additional information becomes available. |
| Invitae | RCV000044784 | SCV000072797 | likely benign | Hereditary breast and ovarian cancer syndrome | 2017-12-12 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000031585 | SCV000054191 | benign | Breast-ovarian cancer, familial 2 | 2012-03-12 | no assertion criteria provided | clinical testing |