ClinVar Miner

Variants in gene combination LOC114827851, MYH6

See also:
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
0 1 129 87 22 1 215

Condition and significance breakdown #

Total conditions: 20
Download table as spreadsheet
Condition likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 14 0 86 57 16 0 159
Cardiovascular phenotype 0 55 30 8 0 93
not provided 1 42 22 9 0 67
not specified 0 10 16 18 0 39
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 27 2 0 0 29
Cardiomyopathy 0 6 4 8 0 18
Inborn genetic diseases 0 5 0 0 0 5
MYH6-related condition 0 3 0 0 0 3
Primary familial hypertrophic cardiomyopathy 0 3 0 0 0 3
Atrial septal defect 3 0 2 0 0 0 2
Dilated cardiomyopathy 1EE 0 2 0 0 0 2
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14 0 1 0 0 1 2
Atrial septal defect 0 1 0 0 0 1
Dilated Cardiomyopathy, Dominant 0 1 0 0 0 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 1 0 0 0 1
Heart failure 0 0 0 1 0 1
Hypertrophic cardiomyopathy 0 1 0 0 0 1
Hypertrophic cardiomyopathy 1 0 1 0 0 0 1
MYH6-related cardiac defects 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 85 58 16 0 159
Ambry Genetics 0 60 30 8 0 98
GeneDx 1 31 18 11 0 61
Fulgent Genetics, Fulgent Genetics 0 27 2 0 0 29
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 9 5 10 0 24
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 6 4 8 0 18
Clinical Genetics, Academic Medical Center 0 1 0 13 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 4 8 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 1 10 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 2 7 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 2 6 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 4 3 0 9
Preventiongenetics, part of Exact Sciences 0 3 1 4 0 8
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 3 0 3 0 6
AiLife Diagnostics, AiLife Diagnostics 0 6 0 0 0 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 2 2 1 0 5
CeGaT Center for Human Genetics Tuebingen 0 1 4 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 2 1 0 4
Revvity Omics, Revvity Omics 0 3 0 0 0 3
Eurofins Ntd Llc (ga) 0 1 0 2 0 3
Blueprint Genetics 0 2 1 0 0 3
Baylor Genetics 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 2 0 2
New York Genome Center 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.