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
11 5 219 120 60 48 369

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1KK 5 3 138 54 40 0 217
not specified 0 0 26 70 45 0 135
not provided 0 1 65 6 1 48 111
Cardiovascular phenotype 0 0 44 33 22 0 99
Primary dilated cardiomyopathy 0 1 4 2 0 0 7
Primary familial hypertrophic cardiomyopathy 0 0 5 1 0 0 6
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
Cardiomyopathy 0 0 0 0 2 0 2
Familial hypertrophic cardiomyopathy 22 2 0 0 0 0 0 2
Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Left ventricular noncompaction cardiomyopathy 0 0 2 0 0 0 2
Cardiomyopathy, familial restrictive, 4 1 0 0 0 0 0 1
Cardiomyopathy, restrictive 0 0 1 0 0 0 1
Familial dilated cardiomyopathy 0 0 1 0 0 0 1
Left ventricular hypertrophy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 121 37 28 0 186
GeneDx 0 0 49 56 43 0 148
Ambry Genetics 0 0 44 33 22 0 99
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 19 21 26 0 66
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/Human Development Section,National Institutes of Health 0 0 16 6 10 0 32
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 3 18 1 0 22
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 5 0 10 0 15
Blueprint Genetics, 0 0 9 3 0 0 12
OMIM 11 0 0 0 0 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 0 0 5 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1

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