ClinVar Miner

Variants studied for Early-onset myopathy with fatal cardiomyopathy

Coded as:
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
16 32 1469 194 642 1 2216

Gene and significance breakdown #

Total genes and gene combinations: 20
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 15 25 1310 164 551 0 1950
LOC101927055, TTN 0 1 12 3 13 0 27
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
LOC126806424, TTN 0 0 13 2 5 0 18
LOC126806420, TTN 0 0 11 2 6 0 17
LOC126806421, TTN 0 1 10 0 5 0 16
LOC126806423, TTN 0 0 9 2 7 0 16
LOC126806427, TTN 0 0 7 4 8 0 15
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 7 1 2 0 11
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: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 1421 193 199 0 1813
Genome-Nilou Lab 0 0 0 0 635 0 635
Baylor Genetics 3 8 33 0 0 0 44
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 5 2 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 4 0 0 0 6
OMIM 4 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 2
3billion 0 2 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 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
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
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.