ClinVar Miner

Variants in gene combination ARG1, MED23

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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 not provided total
81 67 158 232 17 1 512

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arginase deficiency 79 66 146 219 8 1 483
not provided 8 3 13 16 10 0 50
not specified 0 0 8 6 1 0 15
Inborn genetic diseases 1 0 13 0 0 0 14
ARG1-related disorder 2 1 1 2 0 0 6
Intellectual disability, autosomal recessive 18 0 0 0 0 1 0 1
See cases 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 66 15 117 218 7 0 423
GeneDx 6 3 12 20 11 0 52
Baylor Genetics 22 23 2 0 0 0 47
Counsyl 0 12 19 0 0 0 31
Illumina Laboratory Services, Illumina 1 0 12 1 2 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 8 0 0 0 15
Ambry Genetics 1 0 13 0 0 0 14
Fulgent Genetics, Fulgent Genetics 3 7 0 1 0 0 11
OMIM 10 0 0 0 0 0 10
Myriad Genetics, Inc. 1 9 0 0 0 0 10
CeGaT Center for Human Genetics Tuebingen 2 0 2 4 0 0 8
PreventionGenetics, part of Exact Sciences 2 1 1 2 1 0 7
Revvity Omics, Revvity 1 2 2 0 0 0 5
3billion 4 1 0 0 0 0 5
Mendelics 2 2 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Genetic Medico-Diagnostic Laboratory Genica 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 0 0 1

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