ClinVar Miner

Variants studied for diarrheal disease

Included ClinVar conditions (29):
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
104 95 351 48 97 1 665

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYO5B, SNHG22 3 3 143 7 27 0 181
MYO5B 23 12 95 15 32 0 170
SLC26A3 19 52 50 11 12 0 133
EPCAM 9 5 14 5 7 0 37
SLC9A3 8 3 5 4 9 0 28
DGAT1 11 7 9 1 0 0 24
GUCY2C 0 3 6 1 6 0 16
SPINT2 8 2 3 0 0 1 13
NEUROG3 5 1 3 2 1 0 12
LOC130062487, MYO5B 0 0 8 1 1 0 9
PLVAP 3 1 1 0 0 0 5
C12orf60, GUCY2C 2 0 1 0 0 0 3
LOC126862745, MYO5B, SNHG22 0 0 1 1 2 0 3
​intergenic 1 0 1 0 0 0 2
DGAT1, LOC130001383 0 1 1 0 0 0 2
PERCC1 0 1 1 0 0 0 2
SGSH 2 0 0 0 0 0 2
UNC45A 0 0 2 0 0 0 2
WNT2B 2 0 0 0 0 0 2
ACSL5 1 0 0 0 0 0 1
ARID2 0 1 0 0 0 0 1
DGAT1, LOC130001382, LOC130001383, MIR6848 1 0 0 0 0 0 1
DGAT1, LOC130001385 0 1 0 0 0 0 1
DGAT1, LOC130001386 1 0 0 0 0 0 1
DGAT1, MIR6848 0 0 1 0 0 0 1
GUCY2C, PLBD1 0 0 1 0 0 0 1
LOC115253417, LOC130058164, LOC130058165, PERCC1 1 0 0 0 0 0 1
LOC115253417, PERCC1 1 0 0 0 0 0 1
LOC126862746, MYO5B 0 0 1 0 0 0 1
MEN1 1 0 0 0 0 0 1
NMNAT1 0 1 0 0 0 0 1
OCA2 0 0 1 0 0 0 1
RASL12, SLC51B 0 1 0 0 0 0 1
SCNN1A 0 0 1 0 0 0 1
SHH 0 0 1 0 0 0 1
STAT1 1 0 0 0 0 0 1
STX3 1 0 0 0 0 0 1
TERT 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 0 282 29 70 0 383
OMIM 67 0 0 0 0 0 67
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 48 0 0 0 0 49
Genome-Nilou Lab 0 0 0 0 28 0 28
Fulgent Genetics, Fulgent Genetics 2 1 12 8 1 0 24
Mendelics 9 2 2 1 6 0 20
3billion 2 3 3 8 0 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 2 7 1 0 0 15
Baylor Genetics 5 2 6 0 0 0 13
Revvity Omics, Revvity 1 1 6 1 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 3 6 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 5 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 3 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 4 0 4
Undiagnosed Diseases Network, NIH 1 0 3 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 0 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 1 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 3 1 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 2 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 0 0 0 0 3
Department of Pediatrics, ShengJing Hospital of China Medical University 0 3 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Medical College Of Wisconsin 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Genetics Research Lab, Taif University 1 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Gahl Group, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Clinical Bioinformatic Lab, Royan Institute 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Medical Genetics Department, Assistance Publique Hopitaux de Marseille 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
Gastroenterology Department, Qilu Hospital of Shandong University 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
Department of Pediatrics, The Second Xiangya Hospital, Central South University 0 1 0 0 0 0 1
Medical Genetics Department, Ankara Oncology Training and Research Hospital, University of Health Sciences 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 1

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