ClinVar Miner

Variants studied for Hypercholesterolemia, autosomal dominant, 3

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
15 16 496 384 75 5 894

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PCSK9 15 15 495 384 75 5 892
APOB 0 0 1 0 0 0 1
BSND, PCSK9 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
All of Us Research Program, National Institutes of Health 2 1 356 170 20 0 549
Invitae 13 7 154 273 63 0 510
Illumina Laboratory Services, Illumina 1 1 60 25 21 0 108
Fulgent Genetics, Fulgent Genetics 0 0 60 9 2 0 71
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 3 1 9 6 0 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 11 0 14
New York Genome Center 0 0 9 0 0 0 9
Genome-Nilou Lab 0 0 0 0 7 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 0 6 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 4 0 0 5
Revvity Omics, Revvity 1 1 2 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 3 0 0 0 4
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 4 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
Baylor Genetics 1 2 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 1 1 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Mendelics 1 0 0 0 1 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 2 0 0 0 2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Arcensus 0 1 0 0 0 0 1

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