ClinVar Miner

Variants studied for Wolfram syndrome 1

Included ClinVar conditions (8):
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
64 47 197 119 244 27 63 5 687

Gene and significance breakdown #

Total genes and gene combinations: 3
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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 64 47 197 117 236 27 63 4 676
LOC129992166, WFS1 0 0 0 2 8 0 0 0 10
HERC2 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 13 17 47 58 239 27 63 0 464
Fulgent Genetics, Fulgent Genetics 13 11 140 66 3 0 0 0 233
OMIM 19 0 0 0 0 0 0 0 19
New York Genome Center 1 2 13 0 0 0 0 0 16
Mendelics 2 0 1 1 5 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 1 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 5 5
3billion 0 3 1 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 0 0 3
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
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 1 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 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
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
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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