ClinVar Miner

Variants studied for GRIN-related complex neurodevelopmental disorder

Included ClinVar conditions (16):
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
341 362 1547 2044 434 18 4520

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GRIN2A 160 157 760 843 171 10 1971
GRIN2B 110 129 411 627 192 3 1405
GRIN1 61 64 295 566 69 1 1033
GRIN2D 6 10 65 7 2 2 88
GRIN2D, LOC130064855 0 0 3 1 0 0 4
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 1 0 1 0 0 0 2
APOLD1, CDKN1B, DDX47, EMP1, FAM234B, GPRC5A, GPRC5D, GRIN2B, GSG1, HEBP1 1 0 1 0 0 0 2
DPP7, GRIN1, MAN1B1 0 0 2 0 0 0 2
GRIN2D, LOC130064857 2 1 0 0 0 0 2
SCN2A 0 0 0 0 0 2 2
ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7 0 0 1 0 0 0 1
ABCA2, AGPAT2, AJM1, C8G, C9orf163, CAMSAP1, CARD9, CCDC183, CLIC3, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, KCNT1, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, MAMDC4, MAN1B1, MIR126, NACC2, NOTCH1, NPDC1, PAXX, PHPT1, PMPCA, PTGDS, QSOX2, RABL6, SAPCD2, SEC16A, SNAPC4, SNHG7, TMEM141, TMEM250, TRAF2, UAP1L1, UBAC1 0 0 1 0 0 0 1
ANAPC2, ARRDC1, CACNA1B, CIMIP2A, CYSRT1, DPH7, EHMT1, ENTPD8, EXD3, GRIN1, LOC651337, LRRC26, MRPL41, NDOR1, NELFB, NOXA1, NRARP, NSMF, PNPLA7, RNF208, RNF224, SLC34A3, SSNA1, STPG3, TMEM203, TMEM210, TOR4A, TPRN, TUBB4B, ZMYND19 0 0 1 0 0 0 1
ANAPC2, CYSRT1, GRIN1, LRRC26, NDOR1, RNF208, RNF224, SLC34A3, SSNA1, TMEM203, TMEM210, TPRN, TUBB4B 0 0 1 0 0 0 1
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
GRIN2A, LOC130058418 0 1 0 0 0 0 1
GRIN2D, LOC130064856 0 0 1 0 0 0 1
ITSN2 0 0 1 0 0 0 1
NTNG2 0 0 1 0 0 0 1
SPTAN1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 137
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 211 67 1112 2007 324 0 3721
Illumina Laboratory Services, Illumina 2 2 139 9 124 0 276
Institute of Human Genetics, University of Leipzig Medical Center 35 150 27 1 0 0 211
Baylor Genetics 3 10 40 0 0 0 51
Revvity Omics, Revvity 0 1 47 0 0 0 48
3billion 11 16 13 6 0 0 46
PreventionGenetics, part of Exact Sciences 0 1 17 25 1 0 44
Mendelics 14 12 4 9 1 0 40
Neuberg Centre For Genomic Medicine, NCGM 3 0 35 0 0 0 38
OMIM 38 0 0 0 0 0 38
New York Genome Center 1 2 28 1 0 0 32
Fulgent Genetics, Fulgent Genetics 0 2 19 8 0 0 29
Génétique des Maladies du Développement, Hospices Civils de Lyon 13 5 6 1 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 1 9 0 0 0 20
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 15 3 0 0 19
Rare Disease Center, Seoul National University Hospital 1 13 0 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 10 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 0 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 10
MGZ Medical Genetics Center 0 3 7 0 0 0 10
Institute of Human Genetics Munich, TUM University Hospital 4 5 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 4 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 1 4 0 8
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 4 4 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 1 0 0 8
MVZ Martinsried, Medicover Genetics 2 1 5 0 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 2 1 0 0 0 7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 3 3 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 1 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 5 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 4 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 4 1 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 2 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 4 1 0 0 0 6
MVZ Medizinische Genetik Mainz 0 3 3 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 3 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 2 0 0 0 5
Fondazione Telethon, Telethon Institute of Genetics and Medicine 5 0 0 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 3 0 0 0 5
Institute of Human Genetics, University of Goettingen 0 1 4 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 1 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 1 0 0 0 4
Center of Human Genetics, Hôpital Erasme 1 3 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 2 0 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 1 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 3 0 0 0 4
Variantyx, Inc. 1 3 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 0 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 1 1 1 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 2 0 1 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 3 0 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Undiagnosed Diseases Network, NIH 0 3 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 2 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 1 1 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 2 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 2
Laboratory Cellgenetics, GMDL Cellgenetics 1 1 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 1 0 0 0 2
Ambulatório de Genética Médica, Hospital Escola da Universidade Federal de Pelotas 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
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
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Costain lab, The Hospital for Sick Children 0 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 1 0 0 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
Department of Rehabilitation, Anhui Provincial Children's Hospital 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 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
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 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 for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Medgenome Labs Pvt Ltd 0 0 1 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Pediatric EEG Lab, Tongji Hospital, Huazhong University of Science and Technology 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
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 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
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1

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