Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000129373 | SCV000184137 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-19 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign) |
| Clinical Genomics Lab, |
RCV000761164 | SCV000891080 | uncertain significance | Large Cell/Anaplastic Medulloblastoma | 2017-04-03 | no assertion criteria provided | clinical testing | |
| Color | RCV000129373 | SCV000903031 | benign | Hereditary cancer-predisposing syndrome | 2016-11-18 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV000499802 | SCV000592287 | uncertain significance | not specified | 2014-01-24 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000499802 | SCV000715915 | likely benign | not specified | 2017-04-13 | 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 | RCV000590711 | SCV000695239 | uncertain significance | not provided | 2016-09-09 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA2 c.9433G>C (p.Val3145Leu) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. Val3145 is not conserved across species and located in the Nucleic acid-binding, OB-fold domain (Interpro); a Leu residue can be found at this position in zebrafish, suggesting that this missense change is tolerate.This variant was found in 1/121308 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, multiple clinical diagnostic laboratories classified this variant as likely benign/benign without providing evidence to independently evaluate. Furthermore, this variant was found to co-occur with a pathogenic BRIP1 variant (c.2392C>T; p.R798*) in one LCA internal specimen; however the occurrence of one pathogenic BRIP1 variant may not explain a cancer phenotype, as the pathogenicity of this specific LOF variant in BRIP1 (p.Arg798Ter) in addition to all other truncating variants in regards to their breast cancer risk have recently been called into question (PMID:26921362). Taken together, this variant is classified as VUS until additional information is available. |
| Invitae | RCV000231063 | SCV000283368 | likely benign | Hereditary breast and ovarian cancer syndrome | 2017-12-17 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000144220 | SCV000189323 | benign | Breast-ovarian cancer, familial 2 | 2012-01-04 | no assertion criteria provided | clinical testing |