ClinVar Miner

Variants studied for Wolfram syndrome

Included ClinVar conditions (10):
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 likely risk allele uncertain risk allele not provided total
82 84 402 125 244 27 63 4 927

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
WFS1 78 83 385 119 236 27 63 4 891
CISD2, SLC9B1 3 1 11 3 0 0 0 0 18
LOC129992166, WFS1 0 0 0 2 8 0 0 0 10
CISD2, LOC129992892 1 0 3 1 0 0 0 0 5
CISD2, LOC129992891 0 0 2 0 0 0 0 0 2
CISD3, PCGF2 0 0 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 likely risk allele uncertain risk allele not provided total
Fulgent Genetics, Fulgent Genetics 19 40 336 73 3 0 0 0 471
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 14 17 47 58 239 27 63 0 465
OMIM 22 0 0 0 0 0 0 0 22
Department of Pathology and Laboratory Medicine, Sinai Health System 2 4 12 0 2 0 0 0 20
New York Genome Center 1 2 13 0 0 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 4 1 0 0 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 1 0 0 0 0 0 0 12
Mendelics 2 0 1 1 5 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 5 0 0 0 0 0 8
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 4 0 0 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 4 0 0 0 0 0 8
Molecular Endocrinology Laboratory, Christian Medical College 5 2 1 0 0 0 0 0 8
Baylor Genetics 2 2 3 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 3 4 0 0 0 0 0 0 7
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 5 2 0 0 0 0 0 0 7
3billion 1 3 2 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 1 0 0 0 0 0 0 5
MGZ Medical Genetics Center 2 3 0 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 4 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 0 2
Breda Genetics srl 1 1 0 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 2 0 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 0 0 2
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 0 0 1

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