ClinVar Miner

Variants studied for Early-onset myopathy with fatal cardiomyopathy

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 40 1437 189 642 1 2203

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 33 1283 159 551 0 1941
LOC101927055, TTN 0 1 13 3 13 0 28
LOC126806425, TTN 0 1 17 1 9 0 27
LOC126806430, TTN 0 0 19 1 6 0 26
LOC126806422, TTN 0 0 12 3 7 0 19
LOC126806421, TTN 1 1 10 0 5 0 17
LOC126806423, TTN 0 0 9 2 7 0 16
LOC126806424, TTN 0 0 11 2 5 0 16
LOC126806427, TTN 0 0 7 4 8 0 15
LOC126806420, TTN 0 0 8 2 6 0 14
LOC126806431, TTN 0 0 8 3 4 0 14
LOC129935183, TTN 0 2 6 3 6 0 14
LOC126806426, TTN 0 0 11 0 1 0 12
LOC126806429, TTN 0 0 5 2 6 0 12
LOC126806428, TTN 0 0 5 2 4 0 11
LOC126806433, TTN 0 1 6 1 2 0 10
LOC129935184, TTN 1 0 4 1 1 1 6
LOC129935182, TTN 0 1 2 0 0 0 3
LOC129935185, TTN 0 0 0 0 1 0 1
LOC129935186, TTN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 1383 188 199 0 1770
Genome-Nilou Lab 0 0 0 0 635 0 635
Baylor Genetics 3 8 33 0 0 0 44
Mendelics 12 0 1 0 0 0 13
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 8 0 0 0 0 10
3billion 1 6 1 0 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 6 0 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 4 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 1 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
OMIM 4 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
GeneReviews 1 0 0 0 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 2
MGZ Medical Genetics Center 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
Suma Genomics 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 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

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