Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000662664 | SCV000785354 | likely pathogenic | Lynch syndrome I | 2017-07-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001020582 | SCV001182081 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-09-26 | criteria provided, single submitter | clinical testing | Alterations resulting in premature truncation (e.g.reading frame shift, nonsense) |