ClinVar Miner

Variants in gene MYPN

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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
12 5 269 182 139 48 551

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 1 78 108 118 48 308
Dilated cardiomyopathy 1KK 6 3 181 31 21 0 228
not specified 0 0 28 73 46 0 139
Cardiovascular phenotype 0 0 44 33 22 0 99
Primary dilated cardiomyopathy 0 1 7 2 0 0 10
Primary familial hypertrophic cardiomyopathy 0 0 7 1 0 0 8
Cardiomyopathy 0 0 1 4 2 0 7
Dilated cardiomyopathy 1KK; Nemaline myopathy 11, autosomal recessive 0 0 5 0 0 0 5
Nemaline myopathy 11, autosomal recessive 5 0 0 0 0 0 5
Familial dilated cardiomyopathy 0 0 4 0 0 0 4
Hypertrophic cardiomyopathy 0 0 3 0 0 0 3
Dilated cardiomyopathy 0 0 0 2 0 0 2
Familial hypertrophic cardiomyopathy 22 2 0 0 0 0 0 2
Left ventricular noncompaction cardiomyopathy 0 0 2 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; Heart failure; Dilated cardiomyopathy 0 0 0 1 0 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Left ventricular hypertrophy 0 0 1 0 0 0 1
Long QT syndrome 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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 0 163 88 39 0 291
GeneDx 0 0 49 73 122 0 244
Ambry Genetics 0 0 44 33 22 0 99
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 19 23 27 0 69
Leiden Muscular Dystrophy (MYPN) 0 0 0 0 0 48 48
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 18 10 0 0 28
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 3 18 1 0 22
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 9 1 10 0 20
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 3 3 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
Klaassen Lab,Charite University Medicine Berlin 0 0 3 0 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
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
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

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