ClinVar Miner

Variants studied for Tibial muscular dystrophy

Coded as:
Minimum submission review status: Collection method:
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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
17 12 569 131 1492 7 2209

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 17 10 507 117 1305 7 1947
LOC101927055, TTN 0 1 4 2 20 0 27
LOC126806425, TTN 0 1 5 2 19 0 27
LOC126806430, TTN 0 0 6 3 17 0 26
LOC126806422, TTN 0 0 4 1 15 0 19
LOC126806424, TTN 0 0 4 0 13 0 17
LOC126806420, TTN 0 0 4 0 12 0 16
LOC126806421, TTN 0 0 4 0 12 0 16
LOC126806423, TTN 0 0 3 1 12 0 16
LOC126806427, TTN 0 0 2 0 13 0 15
LOC126806431, TTN 0 0 6 0 9 0 15
LOC126806426, TTN 0 0 6 0 7 0 12
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 6 0 4 0 10
LOC129935184, TTN 0 0 1 1 4 0 5
LOC126806432, TTN 0 0 1 1 0 0 2
LOC129935182, TTN 0 0 1 0 1 0 2
LOC129935185, TTN 0 0 0 0 1 0 1
LOC129935186, TTN 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 510 125 1179 0 1814
Genome-Nilou Lab 0 0 0 0 635 0 635
Baylor Genetics 2 6 27 0 0 0 35
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 16 6 1 0 29
Phosphorus, Inc. 0 0 10 1 2 0 13
GeneReviews 4 0 0 0 0 4 8
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Mendelics 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1

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