ClinVar Miner

Variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2J

Coded as:
Minimum submission review status: Collection method:
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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 total
37 67 1484 183 641 2250

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 total
TTN 32 59 1323 156 551 1984
LOC126806425, TTN 0 2 19 1 9 30
LOC101927055, TTN 0 1 14 4 13 28
LOC126806430, TTN 0 0 19 1 6 26
LOC126806422, TTN 0 0 12 3 7 19
LOC126806423, TTN 0 0 10 3 6 17
LOC126806424, TTN 0 1 11 2 5 17
LOC126806421, TTN 0 1 10 0 5 16
LOC126806427, TTN 1 0 7 4 8 15
LOC126806431, TTN 0 1 10 1 4 15
LOC129935183, TTN 1 1 6 3 6 14
LOC126806420, TTN 0 0 6 2 6 12
LOC126806426, TTN 0 0 11 0 1 12
LOC126806429, TTN 0 0 5 2 6 12
LOC126806428, TTN 0 0 7 0 4 11
LOC126806433, TTN 0 0 7 0 2 9
LOC129935184, TTN 1 0 4 1 1 6
LOC129935182, TTN 2 0 2 0 0 4
LOC129935185, TTN 0 0 0 0 1 1
LOC129935186, TTN 0 0 1 0 0 1
SRPK3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 1414 180 176 1770
Genome-Nilou Lab 0 0 0 0 635 635
Baylor Genetics 3 6 33 0 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 19 0 0 0 22
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 9 7 5 0 0 21
Phosphorus, Inc. 0 0 10 0 2 12
3billion 5 1 4 0 0 10
Solve-RD Consortium 2 7 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 7 0 0 8
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 4 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 3 2 0 0 5
Undiagnosed Diseases Network, NIH 3 1 0 1 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 1 1 2 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 4 0 0 0 4
OMIM 4 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 0 0 3
Arcensus 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 2
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 2 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 1 1 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 2 0 0 2
CUBI - Core Unit Bioinformatics, Berlin Institute of Health 0 0 1 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Genetics Department, Hospital De La Santa Creu I Sant Pau 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Variantyx, Inc. 0 1 0 0 0 1

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