ClinVar Miner

Variants studied for BAFopathy

Included ClinVar conditions (42):
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
498 414 1195 458 306 30 2748

Gene and significance breakdown #

Total genes and gene combinations: 56
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMARCA4 18 41 508 87 104 8 711
ARID1B 222 121 127 24 39 12 513
ACTB 38 48 111 280 29 2 483
SMARCA2 37 34 99 26 73 2 261
ARID1A 36 36 89 11 42 3 210
ARID2 43 25 46 8 3 1 122
SMARCC2 13 24 48 1 2 1 85
BCL11A 29 22 30 0 1 0 80
BCL11B 23 18 16 5 0 0 61
SMARCB1 7 20 23 2 3 1 49
SMARCE1 4 2 22 1 0 0 29
ACTL6B 5 8 9 0 1 0 19
ARID1A, LOC129929837 6 0 9 1 2 0 18
ARID1B, LOC115308161 0 2 11 3 2 0 17
ARID2, LOC130007728 4 2 2 1 0 0 9
ARID1A, LOC126805670 1 0 5 1 1 0 8
ARID1B, LOC129997525 0 1 3 3 1 0 8
​intergenic 0 2 4 0 1 0 7
ARID1B, LOC115308161, LOC129997523 0 1 2 0 1 0 4
SMARCC1 0 0 4 0 0 0 4
ACTL6A 0 1 3 0 0 0 3
ARID1B, LOC115308161, LOC129997524 0 0 2 1 0 0 3
ARID1B, LOC115308161, LOC129997525 0 0 2 1 0 0 3
SOX11 1 1 1 0 0 0 3
ARID1B, LOC115308161, LOC129997522 0 0 2 0 0 0 2
ARID2, LINC00938, LOC130007727, LOC130007728 2 0 0 0 0 0 2
DPF2 1 0 1 0 0 0 2
INTS1 0 0 2 0 0 0 2
KDM8 0 0 2 0 0 0 2
LOC130008058, SMARCC2 0 1 1 0 0 0 2
ACAT2, AFDN, AGPAT4, AIRN, AKAP12, ARID1B, C6orf118, C6orf120, CCDC170, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DCPH1, DLL1, DYNLT1, DYNLT2, ERMARD, ESR1, EZR, FAM120B, FBXO5, FNDC1, FRMD1, GPR31, GTF2H5, IGF2R, IPCEF1, KIF25, LINC02487, LINC02901, LOC729681, LPA, MAP3K4, MAS1, MPC1, MRPL18, MTRF1L, MYCT1, NOX3, OPRM1, PACRG, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RGS17, RMND1, RNASET2, RPS6KA2, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNX9, SOD2, SYNE1, SYNJ2, SYTL3, TAGAP, TBP, TBXT, TCP1, TFB1M, THBS2, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, VIP, WDR27, WTAP, ZBTB2, ZDHHC14 1 0 0 0 0 0 1
ACTB, AP5Z1, FBXL18, FSCN1, MMD2, PAPOLB, RADIL, RBAK, RBAK-RBAKDN, RNF216, SLC29A4, TNRC18, WIPI2 0 0 1 0 0 0 1
ACTG1 0 0 1 0 0 0 1
ACTN4 0 0 0 1 0 0 1
AKAP12, ARID1B, CCDC170, CLDN20, CNKSR3, DCPH1, ESR1, FBXO5, GTF2H5, IPCEF1, LINC02840, LOC101928868, LOC102723831, LOC105378066, LOC105378068, LOC105378073, LOC107986528, LOC111828526, LOC115308161, LOC116183076, LOC116183077, LOC121132711, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC129389688, LOC129389689, LOC129389690, LOC129389691, LOC129389692, LOC129389693, LOC129389694, LOC129389695, LOC129389696, LOC129389697, LOC129389698, LOC129389699, LOC129389700, LOC129389701, LOC129389702, LOC129389703, LOC129389704, LOC129997467, LOC129997468, LOC129997469, LOC129997470, LOC129997471, LOC129997472, LOC129997473, LOC129997474, LOC129997475, LOC129997476, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, LOC129997494, LOC129997495, LOC129997496, LOC129997497, LOC129997498, LOC129997499, LOC129997500, LOC129997501, LOC129997502, LOC129997503, LOC129997504, LOC129997505, LOC129997506, LOC129997507, LOC129997508, LOC129997509, LOC129997510, LOC129997511, LOC129997512, LOC129997513, LOC129997514, LOC129997515, LOC129997516, LOC129997517, LOC129997518, LOC129997519, LOC129997520, LOC129997521, LOC129997522, LOC129997523, LOC129997524, LOC129997525, LOC129997526, LOC129997527, LOC129997528, LOC129997529, LOC129997530, LOC129997531, LOC129997532, LOC129997533, LOC129997534, LOC129997535, LOC129997536, LOC129997537, LOC129997538, LOC129997539, LOC129997540, LOC129997541, LOC129997542, LOC129997543, LOC129997544, LOC129997545, LOC129997546, LOC129997547, LOC129997548, LOC129997549, LOC129997550, LOC129997551, LOC129997552, LOC129997553, LOC129997554, LOC129997555, LOC129997556, LOC129997557, LOC129997558, LOC129997559, LOC129997560, LOC129997561, LOC129997562, LOC129997563, LOC129997564, LOC129997565, LOC129997566, LOC129997567, LOC129997568, LOC129997569, LOC129997570, LOC129997571, LOC129997572, LOC129997573, LOC132089374, LOC132089375, LOC132090771, MIR1202, MIR12131, MIR1273C, MIR3692, MIR4466, MTHFD1L, MTRF1L, MYCT1, NOX3, OPRM1, RGS17, RMND1, SCAF8, SERAC1, SNORA116, SNORD28B, SNX9, SYNE1, SYNJ2, SYNJ2-IT1, TFB1M, TIAM2, TMEM242, TMEM242-DT, TULP4, VIP, ZBTB2, ZDHHC14 1 0 0 0 0 0 1
ANKRD52, APOF, CNPY2, COQ10A, CS, IL23A, LOC121832836, LOC124629373, LOC124629374, LOC129390463, LOC129390464, LOC130008058, LOC130008059, LOC130008060, LOC130008061, LOC130008062, LOC130008063, LOC130008064, LOC130008065, LOC130008066, LOC130008067, LOC130008068, LOC130008069, LOC130008070, LOC130008071, LOC130008072, LOC130008073, LOC130008074, LOC130008075, LOC130008076, LOC130008077, LOC130008078, LOC132090122, LOC132090123, LOC132090124, LOC132090125, LOC132090126, LOC132090127, LOC132090128, LOC132090848, LOC132090849, NABP2, PAN2, RNF41, SLC39A5, SMARCC2, STAT2, TRS-CGA4-1 1 0 0 0 0 0 1
ANO6, ARID2, LINC00938, LOC113939936, LOC121832833, LOC126861513, LOC126861514, LOC129390447, LOC130007726, LOC130007727, LOC130007728, LOC130007729, LOC130007730, LOC130007731, LOC130007732, LOC130007733, LOC130007734, LOC130007735, LOC130007736, LOC130007737, LOC130007738, LOC130007739, LOC130007740, LOC130007741, LOC130007742, LOC130007743, SCAF11, SLC38A1 1 0 0 0 0 0 1
ARID1A, AUNIP, C1orf232, CATSPER4, CD52, CEP85, CNKSR1, CRYBG2, DHDDS, EXTL1, FAM110D, HMGN2, LIN28A, LOC101928728, LOC107988049, LOC110121289, LOC112577571, LOC115801417, LOC115801418, LOC115801419, LOC122056801, LOC122056802, LOC122056803, LOC122056804, LOC122056805, LOC122056806, LOC122056807, LOC126805668, LOC126805669, LOC126805670, LOC129388477, LOC129388478, LOC129929782, LOC129929783, LOC129929784, LOC129929785, LOC129929786, LOC129929787, LOC129929788, LOC129929789, LOC129929790, LOC129929791, LOC129929792, LOC129929793, LOC129929794, LOC129929795, LOC129929796, LOC129929797, LOC129929798, LOC129929799, LOC129929800, LOC129929801, LOC129929802, LOC129929803, LOC129929804, LOC129929805, LOC129929806, LOC129929807, LOC129929808, LOC129929809, LOC129929810, LOC129929811, LOC129929812, LOC129929813, LOC129929814, LOC129929815, LOC129929816, LOC129929817, LOC129929818, LOC129929819, LOC129929820, LOC129929821, LOC129929822, LOC129929823, LOC129929824, LOC129929825, LOC129929826, LOC129929827, LOC129929828, LOC129929829, LOC129929830, LOC129929831, LOC129929832, LOC129929833, LOC129929834, LOC129929835, LOC129929836, LOC129929837, LOC129929838, LOC129929839, LOC129929840, LOC129929841, LOC129929842, LOC646471, MAN1C1, MIR1976, MIR3917, MTFR1L, PAFAH2, PAQR7, PDIK1L, PIGV, RPS6KA1, SELENON, SH3BGRL3, SLC30A2, STMN1, TRIM63, UBXN11, ZNF593, ZNF593OS, ZNF683, ZPLD2P 0 0 1 0 0 0 1
ARID1B, LOC123881345 0 1 0 0 0 0 1
ARID1B, LOC129389697, LOC129389698, LOC129997538, LOC129997539, LOC129997540 1 0 0 0 0 0 1
ARID1B, TMEM242, ZDHHC14 1 0 0 0 0 0 1
ARID2, SCAF11 1 0 0 0 0 0 1
ARSL 0 1 0 0 0 0 1
BICRA 0 0 1 0 0 0 1
BICRA, EHD2 0 1 0 0 0 0 1
CDKL5, RS1 0 1 0 0 0 0 1
CIC, PAFAH1B3 0 0 1 0 0 0 1
DERL3, LOC111721701, MMP11, SLC2A11, SMARCB1 0 0 1 0 0 0 1
GIGYF1 0 0 1 0 0 0 1
HCCS-DT 1 0 0 0 0 0 1
HR 0 0 0 0 1 0 1
LOC130001461, SMARCA2 0 0 1 0 0 0 1
LOC130063547, SMARCA4 0 0 0 1 0 0 1
PBRM1 0 0 1 0 0 0 1
PLIN4 0 0 1 0 0 0 1
SOX4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 179
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 34 8 471 75 199 0 787
Labcorp Genetics (formerly Invitae), Labcorp 5 12 87 272 25 0 401
Illumina Laboratory Services, Illumina 7 4 52 15 140 0 218
Baylor Genetics 75 48 81 0 0 0 200
Fulgent Genetics, Fulgent Genetics 5 2 93 61 5 0 166
Revvity Omics, Revvity 8 9 121 1 0 0 139
3billion 38 57 18 7 0 0 120
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 48 10 30 2 0 0 90
OMIM 76 0 0 0 0 0 76
Department of Pathology and Laboratory Medicine, Sinai Health System 1 4 35 18 14 0 72
New York Genome Center 4 3 57 0 0 0 64
Institute of Human Genetics, University of Leipzig Medical Center 14 21 21 4 1 0 61
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 16 27 0 0 0 44
Genetic Services Laboratory, University of Chicago 23 12 0 0 0 0 35
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 14 4 1 1 0 27
Daryl Scott Lab, Baylor College of Medicine 12 8 7 0 0 0 27
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 1 16 1 1 0 26
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 16 0 0 0 0 25
Institute of Human Genetics Munich, TUM University Hospital 17 8 0 0 0 0 25
Mendelics 12 3 5 2 3 0 25
Genetics Department, University Hospital of Angers 18 2 3 1 0 0 24
Juno Genomics, Hangzhou Juno Genomics, Inc 4 13 6 0 0 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 6 13 1 0 0 21
Neuberg Centre For Genomic Medicine, NCGM 0 3 16 0 0 0 19
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 13 4 0 0 0 0 17
Institute of Human Genetics, University of Goettingen 3 4 9 0 0 0 16
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 9 4 2 0 0 0 15
Department of Genetics, Robert DEBRE University Hospital 14 0 0 0 0 0 14
MGZ Medical Genetics Center 1 7 6 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 9 0 0 0 0 14
MVZ Martinsried, Medicover Genetics 6 3 4 0 0 0 13
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 8 4 1 0 0 0 13
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 10 2 0 0 0 0 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 5 1 0 0 0 12
MVZ Medizinische Genetik Mainz 0 4 8 0 0 0 12
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 3 3 6 0 0 0 12
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 4 1 6 0 0 0 11
Dubai Health Genomic Medicine Center, Dubai Health 4 4 2 1 0 0 11
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 6 0 0 0 0 10
Laboratory of Medical Genetics, University of Torino 2 7 1 0 0 0 10
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 5 2 0 0 0 9
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 4 4 0 0 0 9
Centre for Medical Genetics, Mumbai 0 0 0 9 0 0 9
Genetics and Molecular Pathology, SA Pathology 4 1 4 0 0 0 9
GenomeConnect - Brain Gene Registry 0 0 0 0 0 8 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 2 1 0 0 0 8
Laboratoire de Génétique Moléculaire, CHU Bordeaux 7 1 0 0 0 0 8
Variantyx, Inc. 4 4 0 0 0 0 8
Clinical Genomics Laboratory, Stanford Medicine 3 0 4 0 0 0 7
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 3 1 0 0 0 7
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 4 2 1 0 0 0 7
Institute of Human Genetics, Cologne University 3 4 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 2 0 0 0 0 7
Solve-RD Consortium 0 7 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 0 6
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 3 1 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 3 0 0 0 0 6
Department of Human Genetics, Hannover Medical School 0 2 4 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 4 0 0 0 6
Institute of Immunology and Genetics Kaiserslautern 1 2 3 0 0 0 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 5 0 0 0 6
Center of Human Genetics, Hôpital Erasme 4 1 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 1 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 3 0 0 5
GeneReviews 0 0 0 0 0 5 5
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 3 2 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 1 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 2 0 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 2 0 0 0 0 5
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 4 1 0 0 0 0 5
Molecular Genetics Laboratory, Motol Hospital 2 3 0 0 0 0 5
Pediatric Genetics Clinic, Sheba Medical Center 3 2 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 1 3 1 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 1 4 0 0 0 0 5
Suma Genomics 1 3 1 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 1 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 3 1 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 3 0 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 4 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 2 0 0 0 4
Laboratoire de Cytogenomique, Chu Angers 4 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Laboratory of Molecular Genetics, CHU Rennes 0 3 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 2 1 0 0 0 0 3
OLLIN Analises Genomicas, OLLIN 0 1 2 0 0 0 3
Breda Genetics srl, Breda Genetics srl 0 0 2 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 2 0 0 0 0 2
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 1 0 1 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 2 0 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 0 2
Department of Rehabilitation, Anhui Provincial Children's Hospital 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Dobyns Lab, Seattle Children's Research Institute 2 0 0 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 1 1 0 2
Eurofins-Biomnis 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 1 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Laboratory Division, Turku University Hospital 1 1 0 0 0 0 2
Laboratory of genome editing, Research Centre for Medical Genetics 0 2 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 2 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 2 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
2nd Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens 1 0 0 0 0 0 1
Applied Translational Genetics Group, University of Auckland 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Bicknell laboratory, University of Otago 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Center for Medical Genetics, Keio University School of Medicine 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Child and Adolescent Psychiatry Residency Program, Foundation for Education and Research in Health Sciences 1 0 0 0 0 0 1
Children's Hospital of Wisconsin Genetics Clinic, Medical College of Wisconsin 0 1 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 0 1 0 0 0 0 1
Department of Neurology, Jiangxi Provincial Children’s Hospital 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 1 1
Houlden Lab, UCL Institute of Neurology 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Navigene Genetic Science Pvt Ltd 0 0 1 0 0 0 1
Ozbek Human Genetics Laboratory, Izmir Biomedicine and Genome Center 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pediatric Neurology, The Children’s Hospital, Zhejiang University School of Medicine 0 1 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 1 0 0 0 0 1
Plataforma de Genómica Funcional - SJD, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 0 1
Population and Medical Genomics Lab, Sidra Medicine 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 1 0 0 0 0 0 1
Shanghai WeHealth Biomedical Technology Company 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1
Yan Lab, Department of Urology, Pediatric Urolith Center, National Clinical Research Center for Child Health, The Children’s Hospital of Zhejiang University School of Medicine 1 0 0 0 0 0 1

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