ClinVar Miner

Variants studied for congenital 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 total
36 57 33 8 6 137

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC26A3 8 48 25 8 2 89
MYO5B 7 2 2 0 3 14
EPCAM 10 0 3 0 0 12
SLC9A3 6 2 1 0 0 9
DGAT1 1 3 1 0 0 5
MYO5B, SNHG22 0 2 1 0 1 4
NEUROG3 3 0 0 0 0 3
C12orf60, GUCY2C 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 48 0 0 0 49
Illumina Clinical Services Laboratory,Illumina 0 0 27 8 2 37
OMIM 31 0 0 0 0 31
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
Invitae 2 0 0 0 0 2
Mendelics 1 1 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 2
Genome Sciences and Precision Medicine Center,Medical College of Wisconsin 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 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 Medical Center 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
Medical Genetics Department,Assistance Publique Hopitaux de Marseille 0 1 0 0 0 1

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