ClinVar Miner

Variants studied for HMBS-related hepatic porphyria

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
73 18 39 12 20 4 148

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HMBS 72 18 39 10 13 2 136
ABCB6 0 0 0 2 7 0 9
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: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 48 0 0 0 0 0 48
Illumina Laboratory Services, Illumina 2 0 18 8 8 0 36
Phillips Lab, Hematology, University of Utah 0 0 0 2 7 0 9
Neuberg Centre For Genomic Medicine, NCGM 3 1 4 0 0 0 8
CSER _CC_NCGL, University of Washington 0 1 3 2 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 1 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 1 0 0 0 5
Revvity Omics, Revvity 2 2 1 0 0 0 5
Fulgent Genetics, Fulgent Genetics 1 0 3 0 0 0 4
Mendelics 3 0 0 0 1 0 4
3billion 2 1 0 0 0 0 3
Baylor Genetics 1 1 1 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 2 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 1 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
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 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
New York Genome Center 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Watson Genetic Lab 1 0 0 0 0 0 1

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