ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy 9

Coded as:
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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
4 12 46 2 0 64

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 total
TTN 4 9 40 2 55
LOC101927055, TTN 0 1 1 0 2
LOC126806425, TTN 0 1 1 0 2
LOC126806420, TTN 0 0 1 0 1
LOC126806421, TTN 0 0 1 0 1
LOC126806422, TTN 0 0 1 0 1
LOC126806424, TTN 0 1 0 0 1
LOC126806433, TTN 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Baylor Genetics 1 5 16 0 22
Institute of Human Genetics, University of Leipzig Medical Center 0 2 7 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 1 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 3 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 2
New York Genome Center 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 2 0 2
OMIM 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 1
MGZ Medical Genetics Center 0 0 1 0 1
Institute of Human Genetics, Medical University Innsbruck 1 0 0 0 1
Genatak 0 1 0 0 1
Breda Genetics srl 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 1
3billion 1 0 0 0 1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 1

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