ClinVar Miner

Variants in gene combination MHRT, MYH7

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Minimum submission review status: Collection method:
Minimum conflict level:
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
29 26 272 126 28 1 413

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 8 8 156 46 10 0 225
Cardiomyopathy 0 3 102 82 11 0 189
not specified 0 0 55 42 20 0 106
not provided 5 14 52 22 4 1 95
Myopathy, distal, 1 20 0 10 3 10 0 43
Cardiovascular phenotype 0 3 16 9 5 0 33
Familial hypertrophic cardiomyopathy 1 1 5 20 3 4 0 29
Myosin storage myopathy 0 0 19 0 4 0 23
Dilated cardiomyopathy 1S 0 0 12 1 1 0 14
Cardiomyopathy, left ventricular noncompaction 0 0 6 6 0 0 12
Primary dilated cardiomyopathy 0 2 8 0 0 0 10
Dilated Cardiomyopathy, Dominant 0 0 2 6 1 0 9
Primary familial hypertrophic cardiomyopathy 0 2 4 0 0 0 5
none provided 0 0 0 0 5 0 5
Congenital myopathy with fiber type disproportion 1 0 3 0 0 0 4
Conduction disorder of the heart 0 0 2 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 2
MYH7-Related Disorders 1 0 1 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 0 1
Asymmetric septal hypertrophy 0 1 0 0 0 0 1
Atrial fibrillation; Tachycardia; Atrial flutter; Abnormal morphology of left ventricular trabeculae 0 0 1 0 0 0 1
Autosomal dominant MYH7-related disorder 0 0 1 0 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 0 1
Distal muscle weakness 0 1 0 0 0 0 1
First degree atrioventricular block 0 0 1 0 0 0 1
Myopathy 0 1 0 0 0 0 1
Primary familial dilated cardiomyopathy 1 0 0 0 0 0 1
Restrictive cardiomyopathy 0 1 0 0 0 0 1
Restrictive cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Scapuloperoneal myopathy 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Sudden unexplained death 0 0 1 0 0 0 1
Ventricular fibrillation 0 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 7 154 52 10 0 231
Color Health, Inc 0 1 89 81 9 0 180
GeneDx 5 9 44 27 11 0 96
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 4 42 18 8 0 74
Ambry Genetics 0 3 18 9 5 0 35
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 2 21 5 2 0 30
Illumina Clinical Services Laboratory,Illumina 0 0 19 9 9 0 24
GeneReviews 20 0 0 0 3 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 10 5 0 0 17
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 4 1 8 0 14
PreventionGenetics, PreventionGenetics 0 0 0 2 10 0 12
Neurogenetics Laboratory,Royal Perth Hospital 12 0 0 0 0 0 12
Blueprint Genetics 0 4 6 1 0 0 11
Integrated Genetics/Laboratory Corporation of America 1 1 3 4 1 0 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 5 0 9
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 3 6 0 0 0 9
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 5 1 1 0 9
Genetics and Genomics Program,Sidra Medicine 0 0 5 1 0 0 6
Athena Diagnostics Inc 0 0 1 2 2 0 5
Genetic Services Laboratory, University of Chicago 0 1 0 2 2 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 5 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 4 0 0 0 5
OMIM 4 0 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 3 0 1 0 4
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 3 1 0 0 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 4 0 0 0 0 4
Mendelics 0 0 2 0 1 0 3
CSER _CC_NCGL, University of Washington 0 0 3 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 0 1 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 1 0 0 0 1

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