ClinVar Miner

Variants in gene ADGRG1

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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 total
91 45 274 592 102 997

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 73 24 131 570 92 847
Bilateral frontoparietal polymicrogyria 32 12 115 28 38 213
Inborn genetic diseases 1 1 74 7 0 83
not specified 0 0 15 25 18 53
ADGRG1-related disorder 0 0 1 20 5 26
Bilateral frontoparietal polymicrogyria; Polymicrogyria, bilateral perisylvian, autosomal recessive 4 12 5 0 1 22
Polymicrogyria, bilateral perisylvian, autosomal recessive 1 1 1 0 0 3
Abnormal cerebral morphology 1 0 0 0 0 1
Abnormality of the nervous system 0 1 0 0 0 1
Macrogyria; Global developmental delay; Visual impairment; Strabismus; Generalized-onset seizure; Intellectual disability, moderate; Generalized weakness of limb muscles 1 0 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 72 17 74 519 33 715
GeneDx 7 4 24 53 70 158
Illumina Laboratory Services, Illumina 0 0 70 9 31 110
Ambry Genetics 1 1 74 7 0 83
Natera, Inc. 5 0 27 21 9 62
Breakthrough Genomics, Breakthrough Genomics 0 0 4 19 39 62
Genetic Services Laboratory, University of Chicago 10 3 19 10 8 50
PreventionGenetics, part of Exact Sciences 0 0 1 24 17 42
Eurofins Ntd Llc (ga) 0 0 24 3 3 30
Athena Diagnostics 0 0 10 7 11 28
Fulgent Genetics, Fulgent Genetics 4 11 4 0 1 20
CeGaT Center for Human Genetics Tuebingen 1 0 5 9 0 15
OMIM 14 0 0 0 0 14
Genome-Nilou Lab 0 0 2 0 11 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 4 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 1 6 0 0 7
3billion 3 0 2 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 1 0 4
Revvity Omics, Revvity 2 1 1 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 4 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 3 0 0 4
Baylor Genetics 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 2
New York Genome Center 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1

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