ClinVar Miner

Variants in gene SKIC2

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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
89 46 339 526 40 993

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 83 29 261 512 39 917
Trichohepatoenteric syndrome 2 12 13 46 11 18 96
Inborn genetic diseases 0 0 78 0 0 78
SKIC2-related disorder 3 1 3 13 1 21
Trichohepatoenteric syndrome 2 5 4 0 0 11
not specified 0 0 3 3 4 8
Immunodeficiency 57 1 0 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 81 27 248 507 35 898
Ambry Genetics 0 0 78 0 0 78
Illumina Laboratory Services, Illumina 0 0 49 5 16 70
GeneDx 5 0 9 1 7 22
PreventionGenetics, part of Exact Sciences 3 1 3 13 1 21
CeGaT Center for Human Genetics Tuebingen 1 1 5 8 2 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 3 2 1 13
Mayo Clinic Laboratories, Mayo Clinic 1 0 5 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 0 4 0 5
OMIM 4 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 4 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 2 0 4
Genome-Nilou Lab 0 0 0 0 4 4
3billion 0 0 0 4 0 4
Aleixo Muise Laboratory, Hospital For Sick Children 2 2 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 2 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 0 0 0 3
Revvity Omics, Revvity 2 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 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
Clinical Genetics Laboratory, Skane University Hospital Lund 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
DASA 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 0 1

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