ClinVar Miner

Variants studied for obsolete MRX78

Included ClinVar conditions (1):
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
106 33 312 350 126 2 911

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IQSEC2 105 33 306 348 126 2 902
IQSEC2, SMC1A 0 0 2 1 0 0 3
HSD17B10, IQSEC2, RIBC1, SMC1A 0 0 2 0 0 0 2
FAM120C, FGD1, HSD17B10, HUWE1, IQSEC2, KDM5C, MIR98, MIRLET7F2, PHF8, RIBC1, SMC1A, TSR2, WNK3 0 0 1 0 0 0 1
HSD17B10, HUWE1, IQSEC2, KDM5C, MIR98, MIRLET7F2, RIBC1, SMC1A 0 0 1 0 0 0 1
HSD17B10, HUWE1, IQSEC2, RIBC1, SMC1A 0 0 0 1 0 0 1
IQSEC2, KDM5C 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 72 10 273 347 125 0 827
Revvity Omics, Revvity 1 2 8 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 6 1 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 3 4 3 0 0 0 10
OMIM 9 0 0 0 0 0 9
Mendelics 6 0 1 0 0 0 7
Baylor Genetics 0 1 5 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 3 2 1 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 2 1 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 1 1 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
3billion 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 2
Hunter Genetics General Clinical Genetics Service, Hunter Genetics 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Laboratory of Medical Genetics, University of Torino 1 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Spanish Undiagnosed Rare Disease Program-IIER, Instituto de Salud Carlos III 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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