ClinVar Miner

Variants studied for gastrointestinal defect and immunodeficiency syndrome

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
75 33 412 403 73 2 969

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTC7A 52 19 336 338 40 1 764
PI4KA 17 12 23 32 26 0 107
MCFD2, TTC7A 3 1 30 14 3 0 50
LOC126806211, TTC7A 1 1 22 19 4 1 45
PAH 2 0 0 0 0 0 2
CALM2, STPG4, TTC7A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 10 372 369 45 0 833
PreventionGenetics, part of Exact Sciences 0 3 3 32 6 0 44
OMIM 32 0 0 0 0 0 32
Genome-Nilou Lab 0 0 0 0 25 0 25
Baylor Genetics 1 1 11 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 5 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 7 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 1 4 0 0 0 5
Revvity Omics, Revvity 2 0 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 0 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 4 0 0 0 0 0 4
3billion 0 0 2 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Pediatrie Multidisciplinaire, Assitance Publique des Hopitaux de Marseille 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
DASA 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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