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
17 15 560 434 75 5 1004

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 17 14 559 434 75 5 1002
APOB 0 0 1 0 0 0 1
BSND, PCSK9 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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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 1 412 198 20 0 633
Labcorp Genetics (formerly Invitae), Labcorp 15 5 185 311 63 0 579
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 7 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 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, Medical Genetics 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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