Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000197409 | SCV000252958 | likely benign | Ataxia-telangiectasia syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000223244 | SCV000273815 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-09 | 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. |
Gene |
RCV000439128 | SCV000512156 | benign | not specified | 2015-08-21 | 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. |
Color | RCV000223244 | SCV000682120 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000197409 | SCV000797257 | likely benign | Ataxia-telangiectasia syndrome | 2018-01-18 | criteria provided, single submitter | clinical testing |