Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Herman Laboratory, |
RCV000490594 | SCV000579265 | pathogenic | PTEN hamartoma tumor syndrome | 2017-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491885 | SCV000580009 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-08-22 | criteria provided, single submitter | clinical testing | Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation |