ClinVar Miner

Variants studied for trichohepatoenteric syndrome

Included ClinVar conditions (3):
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
35 46 88 18 25 205

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SKIC2 12 14 52 11 18 103
SKIC3 20 30 21 5 4 78
LOC126859653, SKIC2 2 2 10 1 3 17
NELFE, SKIC2 0 0 5 1 0 6
AGK 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 65 7 19 91
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 16 0 0 0 20
OMIM 16 0 0 0 0 16
Fulgent Genetics, Fulgent Genetics 2 2 2 7 0 13
Baylor Genetics 4 1 7 0 0 12
Revvity Omics, Revvity 2 3 5 1 0 11
Genome-Nilou Lab 0 0 0 0 8 8
3billion 0 2 0 4 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 3 0 0 5
Aleixo Muise Laboratory, Hospital For Sick Children 2 3 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 1 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 1 3
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 0 2
Mendelics 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
DASA 1 0 0 0 0 1

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