ClinVar Miner

Variants in gene combination LOC114827850, MYL2

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Minimum submission review status: Collection method:
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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
5 10 83 49 17 5 139

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 10 4 2 52 32 8 3 92
Cardiomyopathy 1 3 23 10 5 0 39
Cardiovascular phenotype 0 2 26 9 0 0 36
Hypertrophic cardiomyopathy 1 4 20 11 2 0 36
not provided 3 3 12 9 7 2 33
not specified 0 0 8 4 6 0 16
Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 0 1 2 0 0 0 3
MYL2-related disorder 1 1 0 1 0 0 3
Primary familial hypertrophic cardiomyopathy 0 1 1 0 0 0 2
Congestive heart failure 0 0 0 0 1 0 1
Death in early adulthood 1 0 0 0 0 0 1
Familial isolated restrictive cardiomyopathy 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 1 0 0 0 1 0 0 1
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 0 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 46 30 8 0 86
Color Diagnostics, LLC DBA Color Health 1 1 20 10 5 0 37
Ambry Genetics 0 2 25 9 0 0 36
GeneDx 3 1 10 9 11 0 34
All of Us Research Program, National Institutes of Health 1 1 18 11 1 0 32
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 6 2 2 0 12
Illumina Laboratory Services, Illumina 0 0 6 2 1 0 9
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 2 4 1 1 0 8
Leiden Muscular Dystrophy (MYL2) 0 0 0 0 0 5 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 1 3 0 5
Clinical Genetics, Academic Medical Center 1 0 0 1 2 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 2 1 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 3 0 4
OMIM 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 1 0 3
PreventionGenetics, part of Exact Sciences 1 0 0 1 1 0 3
Fulgent Genetics, Fulgent Genetics 0 1 2 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 1 1 0 3
AiLife Diagnostics, AiLife Diagnostics 1 1 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 0 1 0 1
Revvity Omics, Revvity 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 1 0 0 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 0 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
3billion 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 0 1 0 0 0 1
Cohesion Phenomics 0 0 0 0 1 0 1

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