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
9 12 572 220 1393 4 2195

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 9 10 506 200 1214 4 1932
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: 16
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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

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