ClinVar Miner

Variants studied for muscular dystrophy-dystroglycanopathy, type A

Included ClinVar conditions (35):
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
634 501 2860 2477 254 12 6501

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POMT1 114 88 285 419 54 0 923
FKRP 122 81 351 379 14 1 906
POMT2 71 61 298 437 32 3 878
FKTN 80 66 383 325 31 0 837
DAG1 8 2 330 185 14 2 537
POMGNT2 22 4 228 135 13 0 397
B3GALNT2 34 18 191 130 12 0 375
CRPPA 49 13 150 122 22 0 351
GMPPB 28 10 121 111 6 0 269
POMGNT1, TSPAN1 39 120 106 22 14 2 265
POMK 24 1 120 77 8 1 226
B4GAT1 4 1 86 77 6 1 172
LARGE1 5 1 75 9 19 1 110
POMGNT1 2 24 33 1 2 0 61
B3GALNT2, TBCE 2 2 22 11 0 0 36
CRPPA, LOC129998005 5 0 19 7 3 0 34
RXYLT1 9 4 11 1 1 1 25
GMPPB, LOC129936764 2 0 6 8 1 0 17
LOC130056175, POMT2 4 5 8 4 0 0 16
CRPPA, LOC129998004 2 0 8 4 0 0 14
LOC130056177, POMT2 0 0 7 5 0 0 12
CRPPA, LOC129389757 1 0 4 4 0 0 9
LOC130056176, POMT2 0 0 1 4 0 0 5
LARGE1, LOC130067281 0 0 4 0 0 0 4
FKTN, TAL2, TMEM38B 2 0 1 0 0 0 3
CELSR1 0 0 2 0 0 0 2
CRPPA, LOC129389758 2 0 0 0 0 0 2
HGSNAT, POMK 0 0 2 0 0 0 2
LARGE1, LOC130067280 0 0 0 0 2 0 2
ABCA1, FKTN, FSD1L, SLC44A1, TAL2, TMEM38B 0 0 1 0 0 0 1
ABHD5, ACKR2, ANO10, CCDC13, CCK, CTNNB1, CYP8B1, GASK1A, HHATL, HIGD1A, KLHL40, KRBOX1, LYZL4, NKTR, POMGNT2, SEC22C, SNRK, SS18L2, TRAK1, ULK4, VIPR1, ZBTB47, ZNF662 0 0 1 0 0 0 1
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 1
AMT, ARIH2, ARIH2OS, C3orf62, CCDC71, CIMIP7, DAG1, DALRD3, GPX1, IHO1, IMPDH2, KLHDC8B, LAMB2, MIR191, NDUFAF3, NICN1, P4HTM, QARS1, QRICH1, RHOA, SLC25A20, TCTA, USP19, USP4, WDR6 1 0 0 0 0 0 1
ANKMY2, BZW2, CRPPA, LOC129998004, LOC129998005, LOC129998006, LRRC72, SOSTDC1 1 0 0 0 0 0 1
B4GAT1, BBS1, BRMS1, DPP3, MRPL11, NPAS4, PELI3, RIN1, SLC29A2 0 0 1 0 0 0 1
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4 0 0 1 0 0 0 1
FKRP, LOC130064775, STRN4 0 0 1 0 0 0 1
FKTN, FSD1L, LOC130002286, LOC130002287 1 0 0 0 0 0 1
FNTA, HOOK3, LOC129389983, LOC130000310, LOC130000311, LOC130000312, LOC130000313, LOC130000314, LOC130000315, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 1
MYH1, MYHAS 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 486 129 2458 2418 187 0 5678
Baylor Genetics 105 213 33 2 0 0 352
Natera, Inc. 16 5 188 26 18 0 253
Illumina Laboratory Services, Illumina 1 0 157 25 36 0 219
Fulgent Genetics, Fulgent Genetics 23 16 138 18 4 0 199
Counsyl 5 70 29 3 0 0 107
OMIM 88 0 1 0 0 0 89
Genome-Nilou Lab 1 0 22 3 41 0 67
Revvity Omics, Revvity 6 2 42 0 0 0 50
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 36 0 0 0 0 37
Myriad Genetics, Inc. 3 31 1 0 0 0 35
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 8 6 5 0 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 6 0 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 9 0 0 0 14
Mendelics 2 4 2 3 2 0 13
New York Genome Center 3 4 3 0 0 0 10
Athena Diagnostics 0 0 0 0 9 0 9
Neuberg Centre For Genomic Medicine, NCGM 1 2 5 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 1 2 1 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 5 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 4 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 3 0 1 0 6
MGZ Medical Genetics Center 2 1 2 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 4 1 0 0 0 5
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 1 0 0 4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
3billion 0 2 2 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 1 1 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 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 2 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Igenomix - Part of Vitrolife Group, Igenomix 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Suma Genomics, Suma Genomics 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Dept. of Pathology and Cell Biology, NewYork-Presbyterian Hospital/Columbia University Irving Medical Center 0 1 0 0 0 0 1

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