ClinVar Miner

Variants studied for hypertrophic cardiomyopathy 10

Included ClinVar conditions (2):
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
14 12 210 136 19 5 375

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYL2 10 9 166 109 12 2 296
LOC114827850, MYL2 4 3 44 27 7 3 79

Submitter and significance breakdown #

Total submitters: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 9 4 196 131 18 0 358
Illumina Laboratory Services, Illumina 0 1 16 4 2 0 23
Fulgent Genetics, Fulgent Genetics 1 2 13 1 0 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 8 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 2 0 6
OMIM 5 0 0 0 0 0 5
Leiden Muscular Dystrophy (MYL2) 0 0 0 0 0 5 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 3 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 3
Mendelics 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 2
3billion 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Garg Lab, Nationwide Children's Hospital 1 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 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

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.