Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175536 | SCV000227038 | pathogenic | not provided | 2014-11-22 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV003388832 | SCV004100719 | likely pathogenic | Maturity-onset diabetes of the young type 2 | 2023-10-16 | criteria provided, single submitter | clinical testing | Criteria applied: PS4,PM2_SUP,PP2,PP3 |