ClinVar Miner

Variants in gene MYPN

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Gene type:

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
66 39 1040 761 187 63 1941

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1KK 48 20 612 482 55 0 1193
Cardiovascular phenotype 14 0 580 365 24 0 983
not provided 3 7 272 141 138 48 552
not specified 0 0 59 92 71 0 186
Dilated cardiomyopathy 1KK; MYPN-related myopathy 0 3 95 13 2 0 113
MYPN-related disorder 0 4 15 35 1 0 55
MYPN-related myopathy 10 4 9 1 9 1 34
Primary dilated cardiomyopathy 0 1 11 3 0 0 14
Hypertrophic cardiomyopathy 0 0 9 1 0 0 10
Primary familial hypertrophic cardiomyopathy 0 0 8 1 0 0 9
Cardiomyopathy 0 0 1 4 2 0 7
Gastric cancer 0 0 0 0 0 5 5
Primary familial dilated cardiomyopathy 0 0 4 0 0 0 4
Dilated cardiomyopathy 1A 0 0 3 0 0 0 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Familial hypertrophic cardiomyopathy 22 2 0 0 0 0 0 2
Left ventricular noncompaction cardiomyopathy 0 0 2 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Restrictive cardiomyopathy 0 0 2 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
See cases 0 0 1 1 0 0 2
Thymoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1
Cap myopathy 1 0 0 0 0 0 1
Cardiomyopathy, familial restrictive, 1; Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1KK; MYPN-related myopathy 0 0 0 0 0 1 1
Cardiomyopathy, familial restrictive, 4 1 0 0 0 0 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Cervical cancer 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Congenital myopathy 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 1 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 2 0 0 0 0 0 1 1
Left ventricular hypertrophy 0 0 1 0 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 1
Nemaline myopathy 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy; Heart failure 0 0 0 1 0 0 1
Sudden unexplained death 0 0 1 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 42 13 591 474 53 0 1173
Ambry Genetics 14 0 580 365 24 0 983
GeneDx 2 2 175 121 153 0 453
Fulgent Genetics, Fulgent Genetics 0 1 88 13 2 0 104
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 35 40 24 0 99
Breakthrough Genomics, Breakthrough Genomics 0 0 4 17 68 0 89
Mayo Clinic Laboratories, Mayo Clinic 0 0 38 16 23 0 77
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 21 23 27 0 71
Clinical Genetics, Academic Medical Center 0 0 11 5 54 0 70
CeGaT Center for Human Genetics Tuebingen 0 0 31 31 1 0 63
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 8 28 18 0 54
PreventionGenetics, part of Exact Sciences 0 3 14 35 1 0 53
Leiden Muscular Dystrophy (MYPN) 0 0 0 0 0 48 48
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 6 15 20 0 41
Revvity Omics, Revvity 0 1 35 3 0 0 39
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 16 6 10 0 32
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 8 20 3 0 31
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 4 15 10 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 10 9 0 26
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 13 1 10 0 24
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 13 0 0 0 15
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 14 14
AiLife Diagnostics, AiLife Diagnostics 0 2 11 0 0 0 13
OMIM 13 0 0 0 0 0 13
Blueprint Genetics 0 0 9 3 0 0 12
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 9 1 0 11
Genome-Nilou Lab 0 0 0 0 9 0 9
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 8 0 1 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 7 0 0 0 8
Eurofins Ntd Llc (ga) 0 0 3 3 2 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 4 1 0 0 8
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 5 0 0 0 6
Clinical Genomics Laboratory, Stanford Medicine 0 0 6 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 0 4 0 0 0 4
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 3 0 0 0 3
Genetics and Genomics Program, Sidra Medicine 0 0 2 1 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 1 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 2 0 0 0 0 3
Klaassen Lab, Charite University Medicine Berlin 0 0 3 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 1 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 1 0 3
3billion 1 1 0 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 2 0 0 0 2
Baylor Genetics 0 0 2 0 0 0 2
Center for Human Genetics, University of Leuven 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 1 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 0 0 0 2
Bionano Laboratories 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Dasa 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 1
Lildballe Lab, Aarhus University Hospital 0 1 0 0 0 0 1
Loeys Lab, Universiteit Antwerpen 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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