SCV000295871 | LDLR-LOVD, British Heart Foundation | criteria provided, single submitter (ACGS Guidelines, 2013) | Likely pathogenic
(Mar 25, 2016)
| germline | literature only | PubMed (8) [See all records that cite these PMIDs] Citation Link, |
SCV000484739 | Robarts Research Institute, Western University | criteria provided, single submitter (Wang et al. (Arterioscler Thromb Vasc Biol. 2016)) | Likely pathogenic | germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV000503463 | Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic
(Dec 16, 2016)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV000540843 | Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation See additional submitters - Centre of Molecular Biology and Gene Therapy, University Hospital Brno
| criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic
(Nov 5, 2016)
| unknown | clinical testing | PubMed (2) [See all records that cite these PMIDs] |
SCV000583929 | U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Mar 30, 2017)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV000588634 | Laboratory of Genetics and Molecular Cardiology, University of São Paulo - HipercolBrasil | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance
(Mar 1, 2016)
| germline | research | PubMed (1) [See all records that cite this PMID] |
SCV000606597 | Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum | no assertion criteria provided | Pathogenic | germline | research | |
SCV000607675 | Fundacion Hipercolesterolemia Familiar - SAFEHEART | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance
(Mar 1, 2016)
| germline | research | PubMed (1) [See all records that cite this PMID] |
SCV001424793 | Division of Medical Genetics, University of Washington - CSER_CHARM | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Sep 10, 2019)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV001754790 | Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic
(Oct 31, 2019)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV001960938 | ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel | reviewed by expert panel (ClinGen FH ACMG Specifications v1-1) | Uncertain significance
(Jun 18, 2021)
| germline | curation | Citation Link, |
SCV003816526 | Revvity Omics, Revvity | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance
(May 27, 2022)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |