Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545812 | SCV000624911 | likely benign | Hereditary nonpolyposis colon cancer | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000565436 | SCV000673985 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-06 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign |
Color | RCV000565436 | SCV000690395 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000606068 | SCV000713972 | likely benign | not specified | 2017-08-11 | 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. |