ClinVar Miner

Variants studied for hypertrophic cardiomyopathy 9

Included ClinVar conditions (10):
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
30 113 1177 142 18 11 1491

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 28 102 1044 123 16 11 1324
LOC101927055, TTN 0 1 12 3 1 0 17
LOC126806423, TTN 1 2 10 1 1 0 15
LOC126806424, TTN 0 2 9 4 0 0 15
LOC126806425, TTN 0 2 12 1 0 0 15
LOC126806421, TTN 0 1 13 0 0 0 14
LOC126806422, TTN 0 0 11 3 0 0 14
LOC126806428, TTN 0 0 10 1 0 0 11
LOC126806432, TTN 0 0 10 1 0 0 11
LOC126806431, TTN 0 0 10 0 0 0 10
LOC126806433, TTN 0 0 8 0 0 0 8
LOC126806420, TTN 0 0 6 1 0 0 7
LOC126806426, TTN 0 1 3 1 0 0 5
LOC126806427, TTN 0 1 3 1 0 0 5
LOC126806429, TTN 0 0 5 0 0 0 5
LOC126806430, TTN 0 0 4 1 0 0 5
LOC129935183, TTN 0 0 5 0 0 0 5
LOC129935182, TTN 0 1 2 0 0 0 3
LOC129935185, TTN 0 0 0 1 0 0 1
PMS2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 15 55 1057 140 18 0 1285
New York Genome Center 2 7 78 0 0 0 87
Juno Genomics, Hangzhou Juno Genomics, Inc 3 36 0 0 0 0 39
Baylor Genetics 5 5 20 0 0 0 30
Institute of Human Genetics, University of Leipzig Medical Center 0 2 7 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 3 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 1 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 3 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 3 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Genatak 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 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 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1

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