ClinVar Miner

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

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
300 3594 6568 13399 1063 18 23884

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 273 3203 5818 11830 927 18 21135
LOC101927055, TTN 3 28 58 172 17 0 270
LOC126806422, TTN 1 44 46 133 9 0 220
LOC126806423, TTN 3 40 47 120 9 0 209
LOC126806425, TTN 2 42 47 111 12 0 202
LOC126806424, TTN 2 36 47 106 8 0 190
LOC126806430, TTN 0 11 45 125 16 0 184
LOC126806431, TTN 0 14 39 119 9 0 173
LOC126806421, TTN 1 29 42 92 7 0 167
LOC126806426, TTN 0 28 35 94 3 0 157
LOC129935183, TTN 3 12 104 36 6 0 157
LOC126806427, TTN 3 28 24 91 11 0 147
LOC126806433, TTN 2 21 30 90 3 0 143
LOC126806420, TTN 1 30 28 76 9 0 138
LOC126806428, TTN 1 11 27 99 6 0 136
LOC126806429, TTN 1 3 26 68 8 0 98
LOC129935182, TTN 3 8 49 14 0 0 72
LOC129935184, TTN 1 0 21 12 1 0 32
LOC129935185, TTN 0 1 15 4 1 0 21
LOC126806432, TTN 0 0 10 1 1 0 12
LOC129935186, TTN 0 2 3 6 0 0 11
FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 2 2 0 0 0 4
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 1
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN 0 0 1 0 0 0 1
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN 0 1 0 0 0 0 1
LOC126806425, LOC126806426, LOC126806427, TTN 0 0 1 0 0 0 1
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN 0 0 1 0 0 0 1
LOC129388955, TTN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 270 3497 4793 13182 956 0 22698
Illumina Laboratory Services, Illumina 0 0 1416 180 176 0 1772
Fulgent Genetics, Fulgent Genetics 19 61 1169 140 18 0 1407
Genome-Nilou Lab 0 0 0 0 635 0 635
Baylor Genetics 6 6 37 0 0 0 49
Juno Genomics, Hangzhou Juno Genomics, Inc 3 39 1 0 0 0 43
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 9 7 5 0 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 13 0 0 0 0 16
Phosphorus, Inc. 0 0 10 0 2 0 12
Solve-RD Consortium 2 7 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 7 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 4 0 0 0 6
Undiagnosed Diseases Network, NIH 3 1 0 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 3 2 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 3 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 4
3billion, Medical Genetics 3 0 1 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 0 0 0 3
Suma Genomics 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 1 1 0 0 3
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Arcensus 0 0 2 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 2 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
CUBI - Core Unit Bioinformatics, Berlin Institute of Health 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1

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