ClinVar Miner

Variants studied for Glycogen storage disease, type V

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
192 231 509 706 46 16 1489

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PYGM 191 231 509 706 46 16 1488
AP5B1, ARL2, ATG2A, B4GAT1, BANF1, BATF2, BBS1, BRMS1, C11orf68, CAPN1, CATSPER1, CCDC85B, CD248, CDC42BPG, CDC42EP2, CDCA5, CFL1, CNIH2, CST6, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EHD1, EIF1AD, FAM89B, FAU, FIBP, FOSL1, FRMD8, GAL3ST3, GPHA2, KAT5, KCNK7, KLC2, LTBP3, MAJIN, MALAT1, MAP3K11, MAP4K2, MEN1, MIR192, MIR194-2, MRPL11, MRPL49, MUS81, NAALADL1, NEAT1, NPAS4, OVOL1, PACS1, PCNX3, PELI3, POLA2, PPP2R5B, PYGM, RAB1B, RELA, RIN1, RNASEH2C, SAC3D1, SART1, SCYL1, SF1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX15, SNX32, SPDYC, SYVN1, TIGD3, TM7SF2, TMEM151A, TSGA10IP, VPS51, YIF1A, ZFPL1, ZNHIT2, ZNRD2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 162 53 205 696 32 0 1148
Natera, Inc. 36 73 146 16 16 0 287
Fulgent Genetics, Fulgent Genetics 16 66 136 3 0 0 221
Revvity Omics, Revvity 19 16 131 0 0 0 166
Baylor Genetics 38 82 5 0 0 0 125
Illumina Laboratory Services, Illumina 3 2 57 5 8 0 75
Counsyl 7 40 23 1 0 0 71
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 14 0 0 0 0 34
Genome-Nilou Lab 0 0 16 3 9 0 28
OMIM 19 0 0 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 7 3 6 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 2 4 8 1 0 0 15
GeneReviews 0 0 0 0 0 13 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 4 0 0 0 6
Myriad Genetics, Inc. 1 5 0 0 0 0 6
Variantyx, Inc. 3 3 0 0 0 0 6
3billion 3 2 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 5
Mendelics 1 1 2 0 1 0 5
Molecular Genetics, Royal Melbourne Hospital 5 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 4 0 0 0 0 4
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 2 0 0 0 0 3
Dasa 3 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 0 0 0 0 3
MGZ Medical Genetics Center 2 0 1 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 2 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratory for Comprehensive Genomic Analysis, Riken 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1

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