Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of molecular diagnosis of dyslipidemias, |
RCV001450039 | SCV001653662 | pathogenic | Hypercholesterolemia, familial, 1 | 2021-05-24 | criteria provided, single submitter | clinical testing | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000515152 | SCV000607744 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-10-19 | no assertion criteria provided | clinical testing |