ClinVar Miner

Variants studied for Myeloperoxidase deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
12 8 3 1 0 2 19

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
LOC106694316, MPO 6 3 1 0 1 9
MPO 3 1 1 1 0 4
LOC106694315, MPO 1 2 0 0 0 3
LPO, MPO 2 2 1 0 1 3

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
OMIM 9 0 0 0 0 9
Revvity Omics, Revvity 3 2 1 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 0 0 0 4
Reproductive Health Research and Development, BGI Genomics 1 0 2 0 0 3
Baylor Genetics 1 1 0 0 0 2
Mendelics 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 1
Koker Lab, University of Erciyes Medical School 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 1

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