ClinVar Miner

Variants studied for Trichohepatoenteric syndrome 2

Coded as:
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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
13 7 58 12 21 107

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SKIC2 11 7 48 11 18 92
LOC126859653, SKIC2 2 0 10 1 3 15

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 56 6 19 81
OMIM 6 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 0 4 0 5
Genome-Nilou Lab 0 0 0 0 5 5
3billion 0 0 0 4 0 4
Revvity Omics, Revvity 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 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
Baylor Genetics 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
DASA 1 0 0 0 0 1

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