ClinVar Miner

Variants studied for muscular dystrophy-dystroglycanopathy, type C

Included ClinVar conditions (26):
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
387 166 1925 2017 185 8 4569

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POMT2 63 28 370 444 45 3 931
POMGNT1, TSPAN1 80 49 302 512 13 2 926
POMT1 97 28 326 433 61 0 907
DAG1 9 7 330 185 15 2 541
CRPPA 34 12 147 122 22 0 335
GMPPB 32 14 117 111 6 0 275
POMK 20 1 118 77 8 1 222
POMGNT1 19 9 97 90 4 0 210
FKTN 10 17 50 4 2 0 83
CRPPA, LOC129998005 6 0 19 7 3 0 35
LOC130056177, POMT2 0 0 13 6 3 0 22
GMPPB, LOC129936764 1 0 6 8 1 0 16
LOC130056175, POMT2 4 1 8 4 0 0 16
CRPPA, LOC129998004 3 0 8 4 0 0 15
POMGNT2 3 0 3 2 2 0 10
CRPPA, LOC129389757 1 0 4 4 0 0 9
LOC130056176, POMT2 0 0 1 4 0 0 5
LOC129930471, POMGNT1 1 0 2 0 0 0 3
HGSNAT, POMK 0 0 2 0 0 0 2
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
CRPPA, LOC129389758 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
LURAP1, POMGNT1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 354 115 1681 1982 146 0 4278
Illumina Laboratory Services, Illumina 0 0 194 25 33 0 252
Fulgent Genetics, Fulgent Genetics 18 9 82 11 2 0 122
Genome-Nilou Lab 1 0 18 1 29 0 49
OMIM 28 0 0 0 0 0 28
Myriad Genetics, Inc. 0 12 0 0 0 0 12
MGZ Medical Genetics Center 2 4 2 0 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 3 0 0 0 8
3billion 1 5 2 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 1 2 5 0 0 0 8
Athena Diagnostics 0 0 0 0 7 0 7
New York Genome Center 3 3 1 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 2 0 0 0 0 6
Counsyl 0 4 1 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 1 0 0 0 5
Mendelics 0 1 0 0 3 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 3 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Baylor Genetics 0 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 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 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Marco Cassone, Clinical geneticist 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1

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