ClinVar Miner

Variants studied for Coffin-Siris syndrome

Included ClinVar conditions (26):
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
376 338 1018 148 199 26 1987

Gene and significance breakdown #

Total genes and gene combinations: 45
Download table as spreadsheet
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
ARID1A 36 36 89 11 42 3 210
SOX11 22 51 60 3 0 0 126
SMARCC2 13 24 48 1 2 1 85
BICRA 18 11 38 1 0 0 68
SMARCB1 7 20 23 2 3 1 49
SOX4 11 9 23 2 0 0 44
DPF2 6 8 14 1 0 0 29
SMARCE1 4 2 22 1 0 0 29
SMARCD1 6 1 10 2 1 0 20
ARID1A, LOC129929837 6 0 9 1 2 0 18
ARID1B, LOC115308161 0 2 11 3 2 0 17
ARID1A, LOC126805670 1 0 5 1 1 0 8
ARID1B, LOC129997525 0 1 3 3 1 0 8
​intergenic 0 2 4 0 0 0 6
ARID2 0 0 4 1 0 0 5
ARID1B, LOC115308161, LOC129997523 0 1 2 0 1 0 4
ARID1B, LOC115308161, LOC129997524 0 0 2 1 0 0 3
ARID1B, LOC115308161, LOC129997525 0 0 2 1 0 0 3
ARID1B, LOC115308161, LOC129997522 0 0 2 0 0 0 2
BICRA, EHD2 0 2 0 0 0 0 2
INTS1 0 0 2 0 0 0 2
KDM8 0 0 2 0 0 0 2
LOC130007872, SMARCD1 0 0 2 0 0 0 2
LOC130008058, SMARCC2 0 1 1 0 0 0 2
SMARCA2 0 0 1 0 0 1 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
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
AP2S1, ARHGAP35, BBC3, BICRA, C5AR1, C5AR2, CALM3, CCDC9, DACT3, DHX34, FKRP, GNG8, INAFM1, KPTN, MEIS3, NAPA, NPAS1, PPP5D1, PRKD2, PTGIR, SAE1, SLC1A5, SLC8A2, STRN4, TMEM160, ZC3H4, ZNF541 0 1 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
ARSL 0 1 0 0 0 0 1
BICRA, C5AR1, C5AR2, CCDC9, DHX34, EHD2, INAFM1, KPTN, LOC112552166, LOC116286190, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064801, LOC130064802, LOC130064803, LOC130064804, LOC130064805, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NOP53, SELENOW, SLC8A2, SNORD23, TPRX1, ZNF541 0 1 0 0 0 0 1
BICRA, LOC121627883 0 1 0 0 0 0 1
DERL3, LOC111721701, MMP11, SLC2A11, SMARCB1 0 0 1 0 0 0 1
HCCS-DT 1 0 0 0 0 0 1
HR 0 0 0 0 1 0 1
LOC129995966, SOX4 0 0 1 0 0 0 1
LOC130063547, SMARCA4 0 0 0 1 0 0 1
PLIN4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 155
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 34 8 471 75 169 0 757
Fulgent Genetics, Fulgent Genetics 5 1 120 32 0 0 158
Baylor Genetics 58 31 57 0 0 0 144
Revvity Omics, Revvity 8 10 119 1 0 0 138
Illumina Laboratory Services, Illumina 7 3 5 3 74 0 92
3billion 31 38 15 1 0 0 85
Department of Pathology and Laboratory Medicine, Sinai Health System 1 4 33 19 12 0 69
New York Genome Center 3 2 58 0 0 0 63
OMIM 63 0 0 0 0 0 63
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 35 7 17 3 0 0 62
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 15 34 0 0 0 49
Institute of Human Genetics, University of Leipzig Medical Center 8 17 18 1 0 0 44
SIB Swiss Institute of Bioinformatics 5 27 5 0 0 0 37
Genetic Services Laboratory, University of Chicago 19 7 0 0 0 0 26
Daryl Scott Lab, Baylor College of Medicine 11 6 6 0 0 0 23
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 10 3 1 1 0 22
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 1 14 1 0 0 22
Mendelics 11 3 4 1 1 0 20
Juno Genomics, Hangzhou Juno Genomics, Inc 3 10 6 0 0 0 19
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 12 1 0 0 0 18
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 11 6 0 0 0 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 10 1 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 0 3 12 0 0 0 15
Institute of Human Genetics Munich, TUM University Hospital 10 3 0 0 0 0 13
MGZ Medical Genetics Center 1 5 7 0 0 0 13
MVZ Martinsried, Medicover Genetics 6 2 5 0 0 0 13
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 9 3 0 0 0 0 12
Institute of Human Genetics, University of Goettingen 2 3 7 0 0 0 12
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 3 7 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 7 0 0 0 0 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 6 1 0 0 0 11
Variantyx, Inc. 4 7 0 0 0 0 11
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 8 2 0 0 0 0 10
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 6 2 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 3 1 5 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 1 1 0 0 0 9
Laboratory of Medical Genetics, University of Torino 1 8 0 0 0 0 9
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 1 4 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 4 1 0 0 0 7
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 4 2 0 0 0 7
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 4 3 0 0 0 0 7
Dubai Health Genomic Medicine Center, Dubai Health 4 1 1 1 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 2 2 0 0 0 7
MVZ Medizinische Genetik Mainz 0 2 5 0 0 0 7
Centre for Medical Genetics, Mumbai 0 0 0 6 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 6 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 4 0 0 0 0 6
Institute of Human Genetics, Cologne University 4 2 0 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 3 2 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 2 0 0 0 0 5
Clinical Genomics Laboratory, Stanford Medicine 2 0 3 0 0 0 5
Department of Human Genetics, Hannover Medical School 0 3 2 0 0 0 5
Duke University Health System Sequencing Clinic, Duke University Health System 4 1 0 0 0 0 5
Laboratoire de Génétique Moléculaire, CHU Bordeaux 5 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 3 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 2 0 0 4
GeneReviews 0 0 0 0 0 4 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 2 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 0 4
Molecular Genetics Laboratory, Motol Hospital 1 3 0 0 0 0 4
Pediatric Genetics Clinic, Sheba Medical Center 3 1 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 4
Undiagnosed Diseases Network, NIH 1 3 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 1 2 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 3 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
University of Washington Department of Laboratory Medicine, University of Washington 0 0 3 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 1 0 0 0 3
Autoinflammatory diseases unit, CHU de Montpellier 1 1 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Eurofins-Biomnis 2 0 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Laboratory Division, Turku University Hospital 1 1 0 0 0 0 2
Laboratory of Molecular Genetics, CHU Rennes 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 1 1 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 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
Suma Genomics 1 1 0 0 0 0 2
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
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
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 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 Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1
Department of Clinical Genetics, Aarhus University Hospital 1 0 0 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 Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 1 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Endocrinology, Genetics and Metabolism Department, Children's Hospital of Nanjing Medical University 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
Genomic Medicine Lab, University of California San Francisco 1 0 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
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 1 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
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 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
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 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
North East and Yorkshire NHS Genomic Laboratory Hub 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 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
Shanghai WeHealth Biomedical Technology Company 1 0 0 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.