ClinVar Miner

Variants studied for Myopathy, myofibrillar, 9, with early respiratory failure

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
10 12 572 220 1393 4 2196

Gene and significance breakdown #

Total genes and gene combinations: 21
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 10 10 506 200 1214 4 1933
LOC126806425, TTN 0 1 7 3 18 0 28
LOC101927055, TTN 0 1 4 1 20 0 26
LOC126806430, TTN 0 0 6 4 16 0 26
LOC126806422, TTN 0 0 5 1 15 0 19
LOC126806420, TTN 0 0 5 2 10 0 17
LOC126806424, TTN 0 0 4 1 12 0 17
LOC126806423, TTN 0 0 3 2 11 0 16
LOC126806421, TTN 0 0 3 0 12 0 15
LOC126806427, TTN 0 0 2 0 13 0 15
LOC126806431, TTN 0 0 5 0 9 0 14
LOC126806426, TTN 0 0 6 1 6 0 13
LOC126806429, TTN 0 0 1 1 10 0 12
LOC129935183, TTN 0 0 3 2 7 0 12
LOC126806428, TTN 0 0 1 0 10 0 11
LOC126806433, TTN 0 0 7 0 4 0 11
LOC129935184, TTN 0 0 2 1 4 0 6
LOC129935182, TTN 0 0 1 0 1 0 2
LOC126806432, TTN 0 0 1 0 0 0 1
LOC129935185, TTN 0 0 0 0 1 0 1
LOC129935186, TTN 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 514 219 1081 0 1815
Genome-Nilou Lab 0 0 0 0 635 0 635
Baylor Genetics 1 6 51 0 0 0 58
GeneReviews 5 0 1 0 0 2 8
OMIM 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 1 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 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.