ClinVar Miner

Variants studied for Tibial muscular dystrophy

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
17 15 533 126 1491 7 2172

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 17 13 477 112 1303 7 1915
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
LOC126806421, TTN 0 0 4 0 12 0 16
LOC126806423, TTN 0 0 3 1 12 0 16
LOC126806424, TTN 0 0 2 0 13 0 15
LOC126806427, TTN 0 0 2 0 13 0 15
LOC126806431, TTN 0 0 6 0 9 0 15
LOC126806420, TTN 0 0 1 0 12 0 13
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 5 0 4 0 9
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
ZNF423 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 474 120 1177 0 1771
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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
OMIM 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Mendelics 2 0 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Inheritance Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 0 1 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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