ClinVar Miner

Variants studied for Vici syndrome

Coded as:
Minimum submission review status: Collection method:
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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
169 57 801 1195 85 5 2280

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EPG5 165 56 790 1179 83 5 2246
EPG5, LOC126862737 3 1 10 15 2 0 31
ARK2C, ARK2N, ATP5F1A, ELOA2, EPG5, HAUS1, HDHD2, IER3IP1, KATNAL2, LOXHD1, PIAS2, PSTPIP2, SETBP1, SIGLEC15, SKOR2, SLC14A1, SLC14A2, SMAD2, ST8SIA5 0 0 1 0 0 0 1
EPG5, LOC126862736 0 0 0 1 0 0 1
EPG5, PSTPIP2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 138 25 757 1193 83 0 2196
Revvity Omics, Revvity 1 3 19 0 0 0 23
SIB Swiss Institute of Bioinformatics 5 11 6 0 0 0 22
Fulgent Genetics, Fulgent Genetics 2 7 5 2 0 0 16
Baylor Genetics 2 1 10 0 0 0 13
Daryl Scott Lab, Baylor College of Medicine 6 1 5 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 11 0 0 0 11
OMIM 11 0 0 0 0 0 11
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 7 0 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 0 0 0 0 6
3billion 3 1 0 1 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Mendelics 3 0 0 0 1 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Next Generation Genetic Polyclinic 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 1 0 1 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 0 1 1 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 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
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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