ClinVar Miner

Variants studied for autosomal dominant distal myopathy

Included ClinVar conditions (33):
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
375 152 4648 2965 1844 45 9690

Gene and significance breakdown #

Total genes and gene combinations: 43
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLNC 295 70 1792 1882 181 6 4146
TTN 42 69 1419 329 1307 30 3027
LDB3 9 1 549 273 46 0 862
MATR3 3 1 187 136 48 0 362
MYOT, PKD2L2-DT 7 3 205 124 22 1 340
TIA1 1 0 105 92 16 0 213
LDB3, LOC110121486 2 1 59 37 8 2 100
LOC126807526, MATR3 1 0 48 32 3 0 78
MYH14 1 0 34 3 16 1 55
LOC101927055, TTN 0 1 14 5 20 0 40
LOC126806425, TTN 0 1 18 4 19 0 38
CRYAB 7 1 20 1 5 3 34
LOC126806423, TTN 1 1 13 3 13 0 30
LOC126806430, TTN 0 0 9 5 17 0 30
LOC126806421, TTN 0 1 15 0 12 0 28
LOC126806422, TTN 0 0 13 3 15 0 28
FLNC, LOC129999273 2 0 10 13 2 0 27
LOC126806424, TTN 0 0 12 5 13 0 27
LOC126806420, TTN 0 0 11 3 12 0 24
LOC126806431, TTN 0 0 15 0 9 0 24
CAV3, OXTR 0 1 19 2 0 0 22
LOC126806428, TTN 0 0 11 1 10 0 22
LOC126806427, TTN 0 0 5 1 13 0 19
LOC126806433, TTN 0 0 14 0 4 0 18
LOC126806426, TTN 0 0 10 2 7 0 17
LOC129935183, TTN 0 0 8 2 7 0 17
LOC126806429, TTN 0 0 5 1 10 0 16
LOC126806432, TTN 0 0 12 2 0 0 14
LOC129935184, TTN 0 0 2 1 4 0 6
CAV3 2 0 1 1 1 1 5
LOC129935182, TTN 0 1 3 0 1 0 5
MATR3, SNHG4 0 0 2 0 1 0 3
LDB3, LOC110121486, LOC130004243, LOC132089876 0 0 2 0 0 0 2
LOC129935185, TTN 0 0 0 1 1 0 2
ADCY5 0 0 1 0 0 0 1
ATP6V1F, FLNC, IRF5, KCP, TNPO3 0 0 1 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 1 1
FRMD1 0 0 1 0 0 0 1
HNRNPA1 1 0 0 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 0 1
LOC129935186, TTN 0 0 0 1 1 0 1
LOC129994755, MATR3, SNHG4 0 0 1 0 0 0 1
MYOT 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 311 67 2774 2557 281 0 5990
Illumina Laboratory Services, Illumina 1 1 616 245 1240 0 1994
Fulgent Genetics, Fulgent Genetics 20 57 1253 181 25 0 1536
Genome-Nilou Lab 0 0 0 0 652 0 652
Baylor Genetics 5 9 71 0 0 0 85
Revvity Omics, Revvity 4 1 53 1 0 0 59
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 25 6 1 0 38
OMIM 33 0 0 0 0 0 33
GeneReviews 9 0 1 0 0 11 21
GenomeConnect, ClinGen 0 0 0 0 0 18 18
Phosphorus, Inc. 0 0 11 3 2 0 16
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 13 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 9 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 10 0 0 0 10
Mendelics 2 0 0 1 3 0 6
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 5 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 0 5 0 0 0 6
MGZ Medical Genetics Center 1 1 3 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 4 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 1 2 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 4 0 0 0 4
Athena Diagnostics Inc 0 0 0 0 3 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 2 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 1 1 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 1 0 0 2
Leiden Muscular Dystrophy (CAV3) 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 0 0 0 1
UniProtKB/Swiss-Prot 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Genetics, INEBIR 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 1

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