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 |
drug response |
not provided |
total |
170
|
71
|
1664
|
1899
|
303
|
5
|
4
|
3269
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
drug response |
not provided |
total |
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1
|
108
|
16
|
632
|
1486
|
267
|
0 |
1
|
2338
|
Cardiovascular phenotype
|
5
|
1
|
687
|
662
|
62
|
0 |
0 |
1417
|
not provided
|
19
|
15
|
303
|
188
|
80
|
0 |
0 |
537
|
Hypercholesterolemia, autosomal dominant, type B
|
9
|
12
|
200
|
57
|
36
|
0 |
3
|
306
|
Familial hypobetalipoproteinemia 1
|
14
|
18
|
222
|
27
|
8
|
0 |
0 |
283
|
Hypercholesterolemia, familial, 1
|
32
|
8
|
161
|
79
|
34
|
0 |
0 |
263
|
not specified
|
1
|
1
|
44
|
75
|
93
|
0 |
0 |
174
|
Inborn genetic diseases
|
0 |
0 |
88
|
18
|
0 |
0 |
0 |
106
|
APOB-related condition
|
3
|
4
|
28
|
63
|
5
|
0 |
0 |
103
|
Familial hypercholesterolemia
|
2
|
4
|
8
|
14
|
27
|
0 |
0 |
53
|
Familial hypobetalipoproteinemia
|
21
|
0 |
25
|
1
|
0 |
0 |
0 |
47
|
Hypobetalipoproteinemia
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
6
|
Warfarin response
|
0 |
0 |
0 |
0 |
0 |
5
|
0 |
5
|
APOB-Related Disorders
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
4
|
Homozygous familial hypercholesterolemia
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Hypercholesterolemia
|
0 |
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Early-onset coronary artery disease
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Stroke disorder
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
APOB-related disorder
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hypercholesterolemia, autosomal dominant, 3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Hypercholesterolemia, autosomal dominant, type B; Muscle AMP deaminase deficiency
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Marfanoid habitus and intellectual disability
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Primary familial dilated cardiomyopathy
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Spastic ataxia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Transient hyperlipidemia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Triangular shaped proximal phalanx of the thumb; Neutrophilia in presence of infection; Isolated systolic hypertension
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
drug response |
not provided |
total |
Invitae
|
105
|
12
|
412
|
1490
|
267
|
0 |
0 |
2286
|
Ambry Genetics
|
5
|
1
|
775
|
680
|
62
|
0 |
0 |
1523
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
256
|
77
|
30
|
0 |
0 |
300
|
GeneDx
|
7
|
6
|
139
|
77
|
51
|
0 |
0 |
280
|
Fulgent Genetics, Fulgent Genetics
|
7
|
4
|
211
|
14
|
0 |
0 |
0 |
236
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
2
|
3
|
86
|
58
|
73
|
0 |
0 |
222
|
PreventionGenetics, part of Exact Sciences
|
3
|
4
|
28
|
74
|
28
|
0 |
0 |
137
|
Robarts Research Institute, Western University
|
2
|
0 |
51
|
64
|
12
|
0 |
0 |
129
|
CeGaT Center for Human Genetics Tuebingen
|
9
|
0 |
12
|
82
|
7
|
0 |
0 |
110
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
1
|
20
|
30
|
35
|
0 |
0 |
88
|
Clinical Genetics, Academic Medical Center
|
1
|
0 |
7
|
16
|
62
|
0 |
0 |
86
|
Laboratory of Genetics and Molecular Cardiology, University of São Paulo
|
5
|
3
|
40
|
3
|
8
|
0 |
0 |
59
|
Color Diagnostics, LLC DBA Color Health
|
2
|
0 |
3
|
19
|
33
|
0 |
0 |
57
|
New York Genome Center
|
4
|
0 |
51
|
0 |
0 |
0 |
0 |
55
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
1
|
2
|
28
|
17
|
5
|
0 |
0 |
53
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
4
|
21
|
27
|
0 |
0 |
53
|
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge
|
2
|
2
|
33
|
2
|
9
|
0 |
0 |
48
|
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum
|
31
|
0 |
0 |
0 |
9
|
0 |
0 |
40
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
5
|
29
|
6
|
0 |
0 |
40
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
2
|
18
|
3
|
9
|
0 |
0 |
34
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
13
|
13
|
2
|
0 |
0 |
33
|
Mayo Clinic Laboratories, Mayo Clinic
|
2
|
0 |
23
|
0 |
0 |
0 |
0 |
25
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
14
|
3
|
7
|
0 |
0 |
24
|
Revvity Omics, Revvity
|
6
|
7
|
11
|
0 |
0 |
0 |
0 |
24
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
0 |
0 |
21
|
Genetic Services Laboratory, University of Chicago
|
2
|
3
|
4
|
9
|
2
|
0 |
0 |
20
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
2
|
14
|
1
|
0 |
0 |
0 |
18
|
Cohesion Phenomics
|
0 |
0 |
0 |
6
|
11
|
0 |
0 |
17
|
Mendelics
|
5
|
2
|
5
|
0 |
4
|
0 |
0 |
16
|
Iberoamerican FH Network
|
1
|
0 |
13
|
0 |
1
|
0 |
0 |
15
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
12
|
1
|
0 |
0 |
0 |
13
|
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan
|
0 |
11
|
0 |
0 |
0 |
0 |
0 |
11
|
Fundacion Hipercolesterolemia Familiar
|
1
|
0 |
8
|
1
|
0 |
0 |
0 |
10
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
6
|
1
|
2
|
0 |
0 |
9
|
Institute for Integrative and Experimental Genomics, University of Luebeck
|
0 |
1
|
0 |
8
|
0 |
0 |
0 |
9
|
AiLife Diagnostics, AiLife Diagnostics
|
2
|
0 |
7
|
0 |
0 |
0 |
0 |
9
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
1
|
6
|
0 |
0 |
0 |
0 |
8
|
Phosphorus, Inc.
|
0 |
0 |
6
|
2
|
0 |
0 |
0 |
8
|
Baylor Genetics
|
3
|
1
|
3
|
0 |
0 |
0 |
0 |
7
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
2
|
3
|
1
|
1
|
0 |
0 |
0 |
7
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
0 |
7
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
2
|
3
|
0 |
0 |
6
|
Pharmacogenomics Lab, Chungbuk National University
|
0 |
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Blueprint Genetics
|
0 |
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
1
|
1
|
2
|
0 |
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
2
|
0 |
1
|
0 |
0 |
4
|
MGZ Medical Genetics Center
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Kazan State Medical University, Kazan State Medical University
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Athena Diagnostics Inc
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Medical University Innsbruck
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Richard Lifton Laboratory, Yale University School of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Region Ostergotland
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
deCODE genetics, Amgen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Medical Genetics, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Phenosystems SA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
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information. If you have questions about the information
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