ClinVar Miner

Variants in gene combination LOC126861897, MYH7

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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
4 8 58 23 5 1 86

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 4 2 39 19 1 0 64
Cardiomyopathy 0 0 24 5 0 0 29
not provided 0 3 16 5 2 1 26
Cardiovascular phenotype 0 0 14 3 0 0 17
not specified 0 0 7 5 3 0 13
Hypertrophic cardiomyopathy 1 0 1 4 0 0 0 5
MYH7-related disorder 0 0 3 2 0 0 5
Dilated cardiomyopathy 1S 0 0 4 0 0 0 4
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 0 3 1 0 0 4
MYH7-related skeletal myopathy 0 1 2 0 1 0 4
Myosin storage myopathy 0 0 3 0 0 0 3
Myopathy, myosin storage, autosomal recessive 0 0 2 0 0 0 2
Primary familial hypertrophic cardiomyopathy 0 1 1 0 0 0 2
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 0 1 0 0 0 1
Left ventricular noncompaction 5 1 0 0 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 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 not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 2 38 19 1 0 64
All of Us Research Program, National Institutes of Health 0 0 19 3 0 0 22
GeneDx 0 2 9 5 2 0 18
Color Diagnostics, LLC DBA Color Health 0 0 13 4 0 0 17
Ambry Genetics 0 0 13 3 0 0 16
PreventionGenetics, part of Exact Sciences 0 0 3 3 1 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 5 1 0 0 6
Revvity Omics, Revvity 0 0 6 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 2 0 0 6
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 3 1 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 3 1 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 2 2 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 3 0 0 0 3
Blueprint Genetics 0 1 1 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 1 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
Mendelics 0 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 1 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 1 0 1

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