Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238357 | SCV000296035 | likely benign | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000238357 | SCV000503498 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1, family member=1 |
Invitae | RCV001409431 | SCV001611451 | likely benign | Familial hypercholesterolemia | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001409431 | SCV001736483 | likely benign | Familial hypercholesterolemia | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225536 | SCV002504163 | likely benign | not provided | 2019-04-09 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |