ClinVar Miner

Variants studied for muscular dystrophy-dystroglycanopathy, type B

Included ClinVar conditions (24):
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
367 156 1488 2048 156 7 4164

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POMGNT1, TSPAN1 79 52 279 510 13 2 920
POMT1 100 29 282 419 53 0 875
POMT2 67 24 298 437 32 3 853
LARGE1 48 9 288 450 37 1 810
GMPPB 28 8 115 111 6 0 267
POMGNT1 19 9 88 89 4 0 207
FKRP 11 8 61 7 6 1 94
FKTN 7 16 49 4 2 0 78
GMPPB, LOC129936764 1 0 6 8 1 0 16
LOC130056175, POMT2 4 1 8 4 0 0 16
LOC130056177, POMT2 0 0 7 5 0 0 12
LOC130056176, POMT2 0 0 1 4 0 0 5
LARGE1, LOC130067281 0 0 4 0 0 0 4
DPM3 2 0 0 0 0 0 2
LARGE1, LOC130067280 0 0 0 0 2 0 2
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 1
BPIFC, C22orf42, DEPDC5, FBXO7, LARGE1, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A1, SLC5A4, SYN3, TIMP3, YWHAH 0 0 1 0 0 0 1
LURAP1, POMGNT1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 329 110 1291 2026 127 0 3883
Fulgent Genetics, Fulgent Genetics 23 15 133 13 3 0 187
Illumina Laboratory Services, Illumina 0 0 69 9 21 0 99
Genome-Nilou Lab 0 0 21 2 27 0 50
OMIM 30 0 0 0 0 0 30
Myriad Genetics, Inc. 1 12 0 0 0 0 13
Athena Diagnostics 0 0 0 0 9 0 9
New York Genome Center 3 4 2 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 2 4 1 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 5 0 0 0 7
Counsyl 0 4 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
3billion 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 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
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 1
Institute of Cell Biology and Neurobiology, Charite - Universitaetsmedizin Berlin 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
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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
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
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 0 0 0 1

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