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:

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
12 13 541 215 1391 4 2163

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 12 11 480 195 1212 4 1905
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
LOC126806423, TTN 0 0 3 2 11 0 16
LOC126806421, TTN 0 0 3 0 12 0 15
LOC126806424, TTN 0 0 2 1 12 0 15
LOC126806427, TTN 0 0 2 0 13 0 15
LOC126806420, TTN 0 0 2 2 10 0 14
LOC126806431, TTN 0 0 5 0 9 0 14
LOC126806426, TTN 0 0 6 1 6 0 13
LOC126806428, TTN 0 0 2 0 10 0 12
LOC126806429, TTN 0 0 1 1 10 0 12
LOC129935183, TTN 0 0 3 2 7 0 12
LOC126806433, TTN 0 0 6 0 4 0 10
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: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 478 214 1079 0 1772
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
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 0 4
3billion 1 1 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
OMIM 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.