ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy 14

Coded as:
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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
4 1 876 628 113 1612

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 4 1 684 522 83 1284
LOC126861896, MYH6 0 0 97 49 14 160
LOC114827851, MYH6 0 0 86 57 16 159
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 0 860 626 110 1598
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 5
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
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
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
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
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
3billion 0 0 1 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 1 0 0 1

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