Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237415 | SCV000295730 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237415 | SCV000503428 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 4, family members =7 |
U4M - |
RCV000237415 | SCV000583901 | pathogenic | Familial hypercholesterolemia 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000237415 | SCV000588619 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Fundacion Hipercolesterolemia Familiar | RCV000237415 | SCV000607651 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Invitae | RCV001042592 | SCV001206284 | pathogenic | Familial hypercholesterolemia | 2019-12-18 | criteria provided, single submitter | clinical testing | This variant, c.1871_1873del, results in the deletion of 1 amino acid(s) of the LDLR protein (p.Ile624del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in families and unrelated individuals affected with familial hypercholesterolemia (PMID: 27824480, 25378237, 25461735, 23375686, 11668640, 20145306, 28932795, 15199436). ClinVar contains an entry for this variant (Variation ID: 252097). This variant has been reported to affect LDLR protein function (PMID: 25378237). For these reasons, this variant has been classified as Pathogenic. |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000237415 | SCV000606548 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |