ClinVar Miner

Variants studied for hemochromatosis type 1

Included ClinVar conditions (4):
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 pathogenic, low penetrance not provided total
115 37 156 828 44 2 7 1163

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
TFR2 65 21 58 602 25 0 0 771
HFE 33 14 72 122 10 2 6 234
LOC113687175, TFR2 14 1 12 44 1 0 0 72
HAMP 1 1 11 50 6 0 0 68
LOC129998967, TFR2 0 0 0 7 0 0 0 7
SLC40A1 0 0 2 3 0 0 0 5
LOC129935241, SLC40A1 0 0 1 0 2 0 0 3
HJV 2 0 0 0 0 0 0 2
MYO18A 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 106 28 109 824 39 2 0 1108
Illumina Laboratory Services, Illumina 2 0 44 4 4 0 0 54
Genome-Nilou Lab 1 2 11 0 3 0 0 17
OMIM 8 0 0 0 1 0 1 10
Fulgent Genetics, Fulgent Genetics 2 1 7 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 0 0 0 0 0 7
Mendelics 3 0 3 0 1 0 0 7
GeneReviews 0 0 0 0 0 0 6 6
Blueprint Genetics 3 0 2 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 0 3
Revvity Omics, Revvity 1 1 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 1 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 2 0 1 0 0 0 0 3
Genomics And Bioinformatics Analysis Resource, Columbia University 2 1 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 0 2
Myriad Genetics, Inc. 2 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
DASA 2 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 0 1
School of Computer Science, University of Waterloo 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1

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