Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238380 | SCV000294477 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
U4M - |
RCV000238380 | SCV000583634 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | ACMG Guidelines: Likely Pathogenic (ii) |
Genetics and Molecular Pathology, |
RCV000238380 | SCV002556602 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2021-07-07 | criteria provided, single submitter | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000238380 | SCV000606023 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |