ClinVar Miner

Variants studied for secretory diarrhea

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 not provided total
87 109 325 45 90 1 623

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYO5B 28 20 98 15 32 0 183
MYO5B, SNHG22 3 4 143 7 27 0 182
SLC26A3 23 70 52 11 12 0 154
EPCAM 13 8 14 5 7 0 44
SLC9A3 11 5 5 4 9 0 32
SPINT2 9 2 3 0 0 1 14
LOC130062487, MYO5B 0 0 8 1 1 0 9
LOC126862745, MYO5B, SNHG22 0 0 1 1 2 0 3
GUCY2C 0 0 0 1 0 0 1
LOC126862746, MYO5B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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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
Fulgent Genetics, Fulgent Genetics 10 18 16 7 1 0 52
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 48 0 0 0 0 49
OMIM 48 0 0 0 0 0 48
Aleixo Muise Laboratory, Hospital For Sick Children 19 12 0 0 0 0 31
Genome-Nilou Lab 0 0 0 0 21 0 21
Mendelics 5 2 2 1 6 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 2 4 1 0 0 12
3billion, Medical Genetics 2 2 2 6 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 0 5 5 0 0 0 10
Baylor Genetics 3 1 3 0 0 0 7
Revvity Omics, Revvity 1 0 4 1 0 0 6
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 4 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
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
Genetics and Molecular Pathology, SA Pathology 2 0 0 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 1 0 0 3
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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
Hadassah Hebrew University Medical Center 0 1 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
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Clinical Bioinformatic Lab, Royan Institute 1 0 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 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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