ClinVar Miner

Variants studied for Acute intermittent porphyria

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
55 15 34 15 22 4 132

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HMBS 54 15 34 9 11 2 112
ABCB6 0 0 0 2 7 0 9
DPAGT1, HMBS 0 0 0 4 4 0 8
ACO2 1 0 0 0 0 0 1
CPOX 0 0 0 0 0 1 1
PPOX 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 19 12 12 0 44
OMIM 40 0 0 0 0 0 40
Phillips Lab, Hematology, University of Utah 0 0 0 2 7 0 9
CSER _CC_NCGL, University of Washington 0 1 3 2 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 1 0 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 2 0 0 0 5
Revvity Omics, Revvity 2 2 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
Mendelics 2 0 0 0 1 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Endocrinology Department, First Hospital Of Shanxi Medical University 3 0 0 0 0 0 3
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 2 0 0 0 1 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
3billion 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Medical Genetics, Hospital Clinico Universitario Virgen de la Arrixaca 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1

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