ClinVar Miner

Variants studied for congenital diarrhea

Included ClinVar conditions (13):
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 total
54 68 298 31 76 521

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYO5B, SNHG22 0 3 143 6 29 181
MYO5B 9 7 97 13 29 154
SLC26A3 10 49 43 11 12 122
EPCAM 11 2 5 1 6 24
DGAT1 4 3 4 0 0 11
SLC9A3 8 2 2 0 0 11
C12orf60, GUCY2C 2 2 2 0 0 6
NEUROG3 3 0 1 0 0 4
PLVAP 3 0 0 0 0 3
PERCC1 2 0 0 0 0 2
WNT2B 2 0 0 0 0 2
SPINT2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 37
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 282 29 70 381
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 48 0 0 0 49
OMIM 41 0 0 0 0 41
Mendelics 6 2 2 1 6 17
Baylor Genetics 3 0 6 0 0 9
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 3 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 4 4
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 1 0 1 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 2
Invitae 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 1 0 2
Genome Sciences and Precision Medicine Center,Medical College of Wisconsin 0 2 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Genetics Research Lab, Taif University 1 0 0 0 0 1
ITMI 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 1
Gahl Group, Medical Genetics Branch, National Human Genome Research Institute,National Institutes of Health 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Medical Genetics Department,Assistance Publique Hopitaux de Marseille 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1
Belal Azab Laboratory,The University of Jordan 0 0 1 0 0 1
Gastroenterology Department,Qilu Hospital of Shandong University 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.