ClinVar Miner

Variants studied for early-onset myopathy with fatal cardiomyopathy

Included ClinVar conditions (7):
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
41 124 2461 333 644 10 3443

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 39 110 2184 285 552 9 3035
LOC101927055, TTN 0 1 23 6 13 0 41
LOC126806425, TTN 0 2 27 2 9 0 38
LOC126806423, TTN 1 2 19 3 8 0 31
LOC126806430, TTN 0 0 22 2 6 0 30
LOC126806421, TTN 0 2 21 0 5 0 28
LOC126806422, TTN 0 0 20 5 7 0 28
LOC126806424, TTN 0 0 20 6 5 0 28
LOC126806420, TTN 0 0 16 3 6 0 23
LOC126806431, TTN 0 0 17 3 4 0 23
LOC126806428, TTN 0 0 15 3 4 0 22
LOC126806427, TTN 0 1 10 5 8 0 20
LOC129935183, TTN 0 3 11 3 6 0 20
LOC126806433, TTN 0 1 14 1 2 0 18
LOC126806426, TTN 0 1 14 1 1 0 17
LOC126806429, TTN 0 0 9 2 6 0 16
LOC126806432, TTN 0 0 10 1 0 0 11
LOC129935184, TTN 1 0 4 1 1 1 6
LOC129935182, TTN 0 1 4 0 0 0 5
LOC129935185, TTN 0 0 0 1 1 0 2
LOC129935186, TTN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 1421 193 199 0 1813
Fulgent Genetics, Fulgent Genetics 15 55 1057 140 18 0 1285
Genome-Nilou Lab 0 0 0 0 635 0 635
Baylor Genetics 6 8 37 0 0 0 51
Juno Genomics, Hangzhou Juno Genomics, Inc 3 37 1 0 0 0 40
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 8 0 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 6 1 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 4 0 0 0 6
Suma Genomics 2 0 3 0 0 0 5
OMIM 4 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 1 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
GeneReviews 1 0 0 0 0 1 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
3billion 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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