ClinVar Miner

Variants studied for hypertrophic cardiomyopathy 14

Included ClinVar conditions (6):
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
4 2 913 639 114 1 1643

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYH6 4 2 715 532 83 0 1311
LOC114827851, MYH6 0 0 90 58 16 1 162
LOC126861896, MYH6 0 0 99 49 15 0 161
MIR208B, MYH6, MYH7 0 0 4 0 0 0 4
MIR208A, MYH6 0 0 2 0 0 0 2
LDB3 0 0 1 0 0 0 1
LOC114827851, LOC126861897, MHRT, MIR208B, MYH6, MYH7 0 0 1 0 0 0 1
MIR208A, MYH6, MYH7 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 860 626 110 0 1598
Fulgent Genetics, Fulgent Genetics 0 0 188 35 7 0 230
Neuberg Centre For Genomic Medicine, NCGM 0 0 6 0 0 0 6
Mendelics 0 0 2 0 2 0 4
Baylor Genetics 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 1 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 1 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
3billion 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 1 0 0 0 1

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