ClinVar Miner

Variants studied for GRIN2B-related complex neurodevelopmental disorder

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
111 129 414 627 192 3 1409

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GRIN2B 110 129 411 627 192 3 1405
APOLD1, CDKN1B, DDX47, EMP1, FAM234B, GPRC5A, GPRC5D, GRIN2B, GSG1, HEBP1 1 0 1 0 0 0 2
APOLD1, ARHGDIB, ART4, ATF7IP, BCL2L14, BORCS5, C12orf60, CDKN1B, CREBL2, DDX47, DUSP16, EMP1, EPS8, ERP27, ETV6, FAM234B, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, GUCY2C, H2AJ, H4C16, HEBP1, LRP6, MANSC1, MGP, PDE6H, PLBD1, PTPRO, RERG, SMCO3, WBP11 0 0 1 0 0 0 1
NTNG2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 50 15 337 617 192 0 1211
Institute of Human Genetics, University of Leipzig Medical Center 24 52 11 0 0 0 85
Mendelics 8 8 0 1 0 0 17
Baylor Genetics 0 6 12 0 0 0 16
3billion 4 7 4 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 2 0 12 0 0 0 14
OMIM 12 0 0 0 0 0 12
New York Genome Center 1 0 8 1 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 6 3 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 2 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 4 1 0 0 6
MVZ Martinsried, Medicover Genetics 2 1 3 0 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 1 1 0 0 5
Rare Disease Center, Seoul National University Hospital 0 5 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 1 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 3 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Institute of Human Genetics Munich, TUM University Hospital 2 2 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 2 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 2 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 1 1 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 2 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 0 0 0 0 3
Illumina Laboratory Services, Illumina 1 1 1 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
MVZ Medizinische Genetik Mainz 0 2 1 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 3 0 0 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Laboratory Cellgenetics, GMDL Cellgenetics 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 1 0 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Costain lab, The Hospital for Sick Children 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 1
Quantitative Genomic Medicine Laboratories, SL 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 1

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