ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy 14

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
5 1 990 724 113 1823

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 total
MYH6 5 1 773 604 83 1456
LOC114827851, MYH6 0 0 97 66 16 179
LOC126861896, MYH6 0 0 111 54 14 179
MIR208B, MYH6, MYH7 0 0 4 0 0 4
MIR208A, MYH6 0 0 2 0 0 2
LDB3 0 0 1 0 0 1
LOC114827851, LOC126861897, MHRT, MIR208B, MYH6, MYH7 0 0 1 0 0 1
MIR208A, MYH6, MYH7 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 972 722 110 1806
Neuberg Centre For Genomic Medicine, NCGM 0 0 6 0 0 6
Mendelics 0 0 2 0 2 4
Baylor Genetics 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 1 0 3
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 2 1 0 3
OMIM 2 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
3billion 1 0 1 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 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 1 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 1
Phosphorus, Inc. 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 1 0 0 1

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