Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000215084 | SCV000278765 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-29 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Gene |
RCV000428559 | SCV000532305 | likely benign | not specified | 2017-07-13 | 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. |
Color | RCV000215084 | SCV000537469 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000463261 | SCV000558415 | likely benign | Ataxia-telangiectasia syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000428559 | SCV000916587 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing |