ClinVar Miner

Variants in gene combination AP4B1, PTPN22

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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 risk factor total
0 0 57 20 12 1 84

Condition and significance breakdown #

Total conditions: 8
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Condition uncertain significance likely benign benign risk factor total
not specified 48 3 0 0 51
not provided 5 14 9 0 25
PTPN22-related disorder 0 5 4 0 9
Diabetes mellitus type 1 2 0 0 0 2
Diabetes mellitus, insulin-dependent, susceptibility to 0 0 2 0 2
Rheumatoid arthritis 2 0 0 0 2
Systemic lupus erythematosus 1 0 0 0 1
chronic fatigue syndrome with infection-triggered onset 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter uncertain significance likely benign benign risk factor total
Ambry Genetics 44 3 0 0 47
Labcorp Genetics (formerly Invitae), Labcorp 0 7 8 0 15
PreventionGenetics, part of Exact Sciences 0 5 4 0 9
CeGaT Center for Human Genetics Tuebingen 1 6 1 0 8
Breakthrough Genomics, Breakthrough Genomics 1 2 4 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 3 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 3 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3 0 0 3
OMIM 0 0 2 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 1
Institute for Medical Immunology, Charité - Universitätsmedizin Berlin 0 0 0 1 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 1

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