Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre de Génétique Moléculaire et Chromosomique, |
RCV000417320 | SCV000503514 | uncertain significance | Familial hypercholesterolemia 3 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 / Software predictions: Benign |
Color | RCV000771326 | SCV000903593 | uncertain significance | Familial hypercholesterolemia | 2020-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000417320 | SCV001003477 | benign | Familial hypercholesterolemia 3 | 2019-12-31 | criteria provided, single submitter | clinical testing |