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 total
28 25 200 83 27 302

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hypertrophic cardiomyopathy 7 6 108 26 10 156
not specified 0 0 54 41 20 105
not provided 5 13 51 19 4 90
Cardiomyopathy 0 3 30 15 10 56
Myopathy, distal, 1 20 0 10 3 10 43
Cardiovascular phenotype 0 3 18 7 5 33
Familial hypertrophic cardiomyopathy 1 1 5 20 3 4 29
Myosin storage myopathy 0 0 17 0 4 21
Dilated cardiomyopathy 1S 0 0 10 1 1 12
Left ventricular noncompaction cardiomyopathy 0 0 6 6 0 12
Scapuloperoneal myopathy 0 0 5 6 1 12
Dilated Cardiomyopathy, Dominant 0 0 2 6 1 9
Primary dilated cardiomyopathy 0 2 4 0 0 6
Primary familial hypertrophic cardiomyopathy 0 2 4 0 0 5
MYH7-Related Disorders 1 0 1 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 1
Atrial fibrillation; Tachycardia; Atrial flutter; Abnormal morphology of left ventricular trabeculae 0 0 1 0 0 1
Autosomal dominant MYH7-related disorder 0 0 1 0 0 1
Conduction disorder of the heart 0 0 1 0 0 1
Congenital myopathy with fiber type disproportion 1 0 0 0 0 1
Distal muscle weakness 0 1 0 0 0 1
Familial dilated cardiomyopathy 1 0 0 0 0 1
First degree atrioventricular block 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Myopathy 0 1 0 0 0 1
Neuromuscular disease 1 0 0 0 0 1
Restrictive cardiomyopathy 0 1 0 0 0 1
Restrictive cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 1
Sudden unexplained death 0 0 1 0 0 1
Ventricular fibrillation 0 0 0 1 0 1
Wolff-Parkinson-White pattern 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 6 106 36 10 165
GeneDx 5 9 44 27 11 96
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 3 43 18 8 74
Ambry Genetics 0 3 19 7 5 34
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 2 21 5 2 30
Color 0 0 7 11 7 25
Illumina Clinical Services Laboratory,Illumina 0 0 19 9 9 24
GeneReviews 20 0 0 0 3 23
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 4 1 8 14
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 9 2 0 13
PreventionGenetics,PreventionGenetics 0 0 0 2 10 12
Neurogenetics Laboratory,Royal Perth Hospital 12 0 0 0 0 12
Blueprint Genetics 0 4 6 1 0 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 5 9
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 3 6 0 0 9
Integrated Genetics/Laboratory Corporation of America 1 1 0 4 0 6
Athena Diagnostics Inc 0 0 1 2 2 5
Genetic Services Laboratory, University of Chicago 0 1 0 2 2 5
OMIM 4 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 3 0 1 4
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 3 1 0 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 4 0 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 2 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 3
Mendelics 0 0 2 0 1 3
CSER _CC_NCGL, University of Washington 0 0 3 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 0 1 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 1 0 0 1

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