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
85 32 238 570 102 930

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 69 22 122 548 88 810
Bilateral frontoparietal polymicrogyria 30 10 113 28 38 208
not specified 0 0 11 23 17 46
Inborn genetic diseases 1 1 34 5 0 41
ADGRG1-related condition 0 0 0 18 5 23
Bilateral frontoparietal polymicrogyria; Polymicrogyria, bilateral perisylvian, autosomal recessive 1 2 4 0 1 8
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
Global developmental delay; Visual impairment; Strabismus; Pachygyria; 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
Seizure; Intellectual disability 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 68 16 70 500 33 687
GeneDx 7 3 23 53 70 156
Illumina Laboratory Services, Illumina 0 0 71 9 31 111
Natera, Inc. 5 0 27 21 9 62
Genetic Services Laboratory, University of Chicago 10 3 19 10 8 50
Ambry Genetics 1 1 34 5 0 41
PreventionGenetics, part of Exact Sciences 0 0 0 22 17 39
Eurofins Ntd Llc (ga) 0 0 24 3 3 30
Athena Diagnostics Inc 0 0 11 5 7 23
OMIM 14 0 0 0 0 14
CeGaT Center for Human Genetics Tuebingen 1 0 5 8 0 14
Genome-Nilou Lab 0 0 2 0 11 13
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 3 3 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 1 5 0 0 6
Fulgent Genetics, Fulgent Genetics 1 1 3 0 1 6
Revvity Omics, Revvity 2 1 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
3billion 2 0 2 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
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
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
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1

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