Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165004 | SCV000215698 | pathogenic | Hereditary cancer-predisposing syndrome | 2014-06-26 | 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) |