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
27 22 151 63 21 238

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 55 39 20 104
Hypertrophic cardiomyopathy 6 5 62 21 9 99
not provided 5 12 46 4 2 67
Cardiomyopathy 0 1 26 13 9 47
Cardiovascular phenotype 0 3 19 7 5 33
Myopathy, distal, 1 20 0 5 6 3 33
Dilated Cardiomyopathy, Dominant 0 0 5 7 1 13
Left ventricular noncompaction cardiomyopathy 0 0 6 6 1 13
Myosin storage myopathy 0 0 5 6 1 12
Scapuloperoneal myopathy 0 0 5 6 1 12
Familial hypertrophic cardiomyopathy 1 1 4 3 0 1 7
Primary dilated cardiomyopathy 0 2 3 0 0 5
Primary familial hypertrophic cardiomyopathy 0 2 4 0 0 5
MYH7-Related Disorders 1 0 1 0 0 2
Atrial fibrillation; Tachycardia; Atrial flutter; Abnormal morphology of left ventricular trabeculae 0 0 1 0 0 1
Cardiomyopathy, restrictive 0 1 0 0 0 1
Congenital myopathy with fiber type disproportion 1 0 0 0 0 1
Distal muscle weakness 0 1 0 0 0 1
First degree atrioventricular block 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Muscular Diseases 0 1 0 0 0 1
Sudden unexplained death 0 0 1 0 0 1
Wolff-Parkinson-White pattern 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 5 56 15 8 90
GeneDx 5 9 44 22 9 89
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 44 18 8 74
Ambry Genetics 0 2 20 7 5 34
Color 0 0 7 11 7 25
GeneReviews 20 0 0 0 3 23
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 17 1 1 20
Illumina Clinical Services Laboratory,Illumina 0 0 7 7 1 15
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 4 1 8 14
PreventionGenetics 0 0 0 2 10 12
Neurogenetics Laboratory,Royal Perth Hospital 12 0 0 0 0 12
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
Blueprint Genetics, 0 3 4 1 0 8
Integrated Genetics/Laboratory Corporation of America 0 2 3 1 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/Human Development Section,National Institutes of Health 0 0 3 0 1 4
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 4 0 0 0 4
CSER_CC_NCGL; University of Washington Medical Center 0 0 3 0 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 3 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 1 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 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

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