ClinVar Miner

Variants studied for TTN-related myopathy

Included ClinVar conditions (13):
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
37 21 1792 464 1102 8 2303

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 25 14 1574 400 1063 7 1995
BIN1 7 5 183 60 19 1 252
LOC101927055, TTN 0 0 13 4 19 0 26
SPEG 3 1 10 0 0 0 14
ASIC4, SPEG 2 1 8 0 0 0 11
BIN1, LOC112806045 0 0 3 0 0 0 3
CYP1B1 0 0 1 0 0 0 1
NF1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 1494 408 1091 0 1900
Invitae 0 1 118 56 10 0 185
Fulgent Genetics,Fulgent Genetics 1 0 128 0 0 0 129
Baylor Genetics 7 1 68 0 0 0 76
OMIM 17 0 0 0 0 0 17
GeneReviews 9 0 1 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 4 0 0 0 6
Broad Institute Rare Disease Group, Broad Institute 0 2 3 0 1 0 6
Genetic Services Laboratory, University of Chicago 1 0 4 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 3 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Belal Azab Laboratory,The University of Jordan 0 1 0 0 0 0 1

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