Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000215945 | SCV000274260 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV001082446 | SCV000291053 | likely benign | Familial cancer of breast; Fanconi anemia, complementation group J | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409950 | SCV000490079 | likely benign | Fanconi anemia, complementation group J | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411438 | SCV000490080 | likely benign | Neoplasm of ovary | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000601018 | SCV000726980 | likely benign | not specified | 2018-01-19 | 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. |
Institute for Biomarker Research, |
RCV000215945 | SCV000747817 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-16 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000230450 | SCV001134034 | likely benign | not provided | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Color | RCV000215945 | SCV001358853 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-27 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000601018 | SCV001361205 | likely benign | not specified | 2019-06-20 | criteria provided, single submitter | clinical testing |