ClinVar Miner

Variants in gene MYPN

Minimum submission review status: Collection method:
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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 6 430 216 139 48 746

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1KK 10 4 361 116 50 0 516
not provided 0 1 86 68 80 48 269
not specified 0 0 30 73 46 0 141
Cardiovascular phenotype 0 0 33 44 22 0 99
Primary dilated cardiomyopathy 0 1 10 3 0 0 13
none provided 0 0 1 6 4 0 11
Primary familial hypertrophic cardiomyopathy 0 0 7 1 0 0 8
Cardiomyopathy 0 0 1 4 2 0 7
Nemaline myopathy 11, autosomal recessive 5 0 1 0 0 0 6
Dilated cardiomyopathy 1KK; Nemaline myopathy 11, autosomal recessive 0 0 5 0 0 0 5
Hypertrophic cardiomyopathy 0 0 4 1 0 0 5
Primary familial dilated cardiomyopathy 0 0 4 0 0 0 4
Dilated cardiomyopathy 1A 0 0 3 0 0 0 3
Cardiomyopathy, left ventricular noncompaction 0 0 2 0 0 0 2
Familial hypertrophic cardiomyopathy 22 2 0 0 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1
Cardiomyopathy, familial restrictive, 4 1 0 0 0 0 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 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
Primary dilated cardiomyopathy; Cardiomyopathy; Heart failure 0 0 0 1 0 0 1
Restrictive cardiomyopathy 0 0 1 0 0 0 1
Sudden unexplained death 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 1 343 124 39 0 512
GeneDx 0 0 49 73 122 0 244
Ambry Genetics 0 0 33 44 22 0 99
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 21 23 27 0 71
Leiden Muscular Dystrophy (MYPN) 0 0 0 0 0 48 48
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 25 14 0 0 39
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 4 11 18 0 33
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 16 6 10 0 32
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 13 1 10 0 24
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 18 1 0 22
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 7 5 0 18
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 2 6 8 0 16
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 13 0 0 0 15
Blueprint Genetics 0 0 9 3 0 0 12
OMIM 11 0 0 0 0 0 11
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 9 1 0 11
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 8 0 1 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 3 2 0 8
Fulgent Genetics,Fulgent Genetics 0 0 5 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Klaassen Lab,Charite University Medicine Berlin 0 0 3 0 0 0 3
Genetics and Genomics Program,Sidra Medicine 0 0 2 1 0 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 1 0 0 0 2
Center for Human Genetics,University of Leuven 0 0 2 0 0 0 2
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Loeys Lab,Universiteit Antwerpen 0 0 1 0 0 0 1

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