Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491621 | SCV000579997 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-02-18 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Other strong data supporting pathogenic classification |
Center for Human Genetics, |
RCV000660239 | SCV000782245 | likely pathogenic | Cowden syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing |