ClinVar Miner

Variants in gene RYR1

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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 drug response not provided total
651 740 5602 4603 458 38 423 10772

Condition and significance breakdown #

Total conditions: 110
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
RYR1-related disorder 505 268 2612 3773 206 0 9 7293
Malignant hyperthermia, susceptibility to, 1 50 83 3264 1556 152 0 0 4894
not provided 171 291 1862 636 308 0 365 3149
not specified 1 0 279 372 177 0 0 775
Inborn genetic diseases 9 16 515 26 2 0 0 568
Congenital multicore myopathy with external ophthalmoplegia 57 67 298 39 91 0 0 546
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 9 26 376 34 21 0 0 466
Central core myopathy 93 85 239 9 53 0 0 461
Malignant hyperthermia of anesthesia 25 36 107 11 1 0 1 174
RYR1-related myopathy 21 33 46 3 4 0 0 105
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 16 30 40 0 0 0 1 87
King Denborough syndrome 7 7 4 0 25 0 0 43
Congenital myopathy with fiber type disproportion 4 6 21 0 0 0 8 39
desflurane response - Toxicity 0 0 0 0 0 38 0 38
enflurane response - Toxicity 0 0 0 0 0 38 0 38
halothane response - Toxicity 0 0 0 0 0 38 0 38
isoflurane response - Toxicity 0 0 0 0 0 38 0 38
methoxyflurane response - Toxicity 0 0 0 0 0 38 0 38
sevoflurane response - Toxicity 0 0 0 0 0 38 0 38
succinylcholine response - Toxicity 0 0 0 0 0 38 0 38
Centronuclear myopathy 9 21 4 0 0 0 0 34
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 3 1 13 0 0 0 1 18
Malignant hypothermia 0 0 11 0 2 0 0 13
Congenital myopathy 1 1 4 6 0 0 0 12
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 4 7 0 0 0 0 0 11
See cases 1 3 6 1 0 0 0 11
Myopathy, RYR1-associated 4 2 4 0 0 0 0 10
Abnormality of the musculature 3 5 0 0 0 0 0 8
Myopathy 4 2 2 0 0 0 0 8
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia 2 3 1 0 0 0 0 6
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 2 2 2 0 0 0 0 6
Central core myopathy; Malignant hyperthermia, susceptibility to, 1 1 3 2 0 0 0 0 6
Cervical cancer 0 0 0 0 0 0 5 5
Limb-girdle muscular dystrophy 0 1 4 0 0 0 0 5
Central core myopathy; King Denborough syndrome 1 1 2 0 0 0 0 4
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia 1 0 0 0 0 0 3 4
Familial cancer of breast 0 0 0 0 0 0 4 4
Long QT syndrome 0 0 4 0 0 0 0 4
Melanoma 0 0 0 0 0 0 4 4
Multiminicore myopathy 0 1 3 0 0 0 0 4
Neuromuscular disease 0 3 1 0 0 0 0 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 0 4 4
Elevated circulating creatine kinase concentration; Myalgia; Exercise-induced myalgia 0 0 3 0 0 0 0 3
Acute myeloid leukemia 0 0 0 0 0 0 2 2
Acute rhabdomyolysis 0 1 1 0 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 1 1 0 0 0 0 2
Arthrogryposis multiplex congenita 1 1 0 0 0 0 0 2
Axial myopathy, late-onset 0 0 1 1 0 0 0 2
Central core disease, autosomal recessive 2 0 0 0 0 0 0 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; Myopathy, RYR1-associated 0 0 0 0 0 0 2 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy 0 0 0 0 0 0 2 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Myopathy, RYR1-associated 0 0 0 0 0 0 2 2
Congenital muscular dystrophy; Generalized muscle weakness; EMG: myopathic abnormalities; Congenital hip dislocation 0 0 2 0 0 0 0 2
Congenital muscular dystrophy; Myopathy; Respiratory insufficiency 0 2 0 0 0 0 0 2
Congenital myasthenic syndrome 0 0 2 0 0 0 0 2
Distal arthrogryposis 0 2 0 0 0 0 0 2
Epilepsy 0 0 0 2 0 0 0 2
Gastric cancer 0 0 0 0 0 0 2 2
Hereditary skeletal muscle disorder 0 0 1 1 0 0 0 2
Hydrops fetalis 1 1 0 0 0 0 0 2
Malignant hyperthermia 2 0 0 0 0 0 0 2
Malignant hyperthermia and exertional rhabdomyolosis 0 0 1 1 0 0 0 2
Malignant hyperthermia, susceptibility to 2 0 0 0 0 0 0 2
Neuromuscular disease, congenital, with uniform type 1 fiber 2 0 0 0 0 0 0 2
Scoliosis; Proximal muscle weakness; Delayed gross motor development; Pelvic girdle muscle weakness; Progressive distal muscle weakness 0 1 1 0 0 0 0 2
Thymoma 0 0 0 0 0 0 2 2
Anterior segment dysgenesis 7 0 0 1 0 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 0 0 0 0 1
Autosomal dominant and autosomal recessive RYR1-related disorders 0 1 0 0 0 0 0 1
Autosomal semidominant RYR1-related disorders 0 1 0 0 0 0 0 1
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; Autosomal dominant centronuclear myopathy 0 0 0 0 0 0 1 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Autosomal dominant centronuclear myopathy; Congenital myopathy with fiber type disproportion; Multiminicore myopathy 0 0 0 0 0 0 1 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy 0 0 0 0 0 0 1 1
Central core myopathy; Neuromuscular disease 1 0 0 0 0 0 0 1
Charcot-Marie-Tooth, Intermediate 1 0 0 0 0 0 0 1
Clubfoot; EMG abnormality; Lower limb amyotrophy 1 0 0 0 0 0 0 1
Congenital myasthenic syndrome 12 0 0 1 0 0 0 0 1
Congenital myopathy with cores 0 0 1 0 0 0 0 1
Distal myopathy 0 0 1 0 0 0 0 1
Germ cell tumor of testis 0 0 0 0 0 0 1 1
Hypohidrotic Ectodermal Dysplasia, Dominant 0 1 0 0 0 0 0 1
Hypotonia 0 1 0 0 0 0 0 1
Intellectual disability 0 0 0 1 0 0 0 1
Isolated asymptomatic elevation of creatine phosphokinase 0 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 0 1 1
Lynch syndrome 5 0 1 0 0 0 0 0 1
Malignant hyperthermia equivocal with halotane 0 0 1 0 0 0 0 1
Malignant hyperthermia of anesthesia; Neuromuscular disease 1 0 0 0 0 0 0 1
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy 0 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 0 1 1
Multi-minicore disease and atypical periodic paralysis 0 0 0 1 0 0 0 1
Multiminicore/minicore/multicore disease 0 0 0 1 0 0 0 1
Muscle tissue disorder 0 0 0 1 0 0 0 1
Muscular dystrophy and arthrogryposis 0 0 1 0 0 0 0 1
Myopathy, progressive axial with cataracts 0 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
Osteoporosis; Myotonia; Mildly elevated creatine kinase; Limb pain 0 0 1 0 0 0 0 1
Ptosis; Absence of the sacrum; History of neonatal hypotonia 0 1 0 0 0 0 0 1
Pulmonary Surfactant Metabolism Dysfunction, Dominant 1 0 0 0 0 0 0 1
Rhabdomyolysis 0 1 0 0 0 0 0 1
Rhabdomyolysis-myalgia syndrome 0 0 1 0 0 0 0 1
Short stature; Delayed gross motor development; Congenital contracture; Proximal amyotrophy 1 0 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 1 1
USH2A-related disorder 0 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 166
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Labcorp Genetics (formerly Invitae), Labcorp 504 237 2542 3738 203 0 0 7224
All of Us Research Program, National Institutes of Health 16 21 2229 911 49 0 0 3226
Color Diagnostics, LLC DBA Color Health 14 21 1394 1017 129 0 0 2575
GeneDx 89 160 901 418 318 0 0 1886
PreventionGenetics, part of Exact Sciences 64 83 424 391 159 0 0 1121
Revvity Omics, Revvity 58 47 751 14 0 0 0 870
Ambry Genetics 9 16 515 26 2 0 0 568
CeGaT Center for Human Genetics Tuebingen 36 30 214 254 15 0 0 549
Fulgent Genetics, Fulgent Genetics 24 50 397 34 21 0 0 526
Illumina Laboratory Services, Illumina 1 6 280 55 82 0 0 407
RYR1 database 0 0 0 0 0 0 364 364
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 32 21 214 83 6 0 0 356
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 33 60 209 16 16 0 0 334
Breakthrough Genomics, Breakthrough Genomics 0 1 10 100 140 0 0 251
Eurofins Ntd Llc (ga) 14 6 136 15 78 0 0 249
Mayo Clinic Laboratories, Mayo Clinic 4 4 83 35 79 0 0 205
Genetic Services Laboratory, University of Chicago 16 14 50 25 62 0 0 167
Athena Diagnostics 6 6 51 9 28 0 0 100
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 26 21 2 33 0 0 97
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 3 14 10 55 0 0 85
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 11 6 19 20 25 0 0 81
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 3 1 58 5 7 0 0 74
GeneReviews 53 0 0 0 3 0 8 63
CSER _CC_NCGL, University of Washington 4 1 31 17 0 0 0 53
Baylor Genetics 8 6 38 0 0 0 0 52
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 22 5 25 0 0 0 0 52
3billion 11 13 23 1 0 0 0 48
Department of Pathology and Laboratory Medicine, Sinai Health System 3 4 41 0 0 0 0 48
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 6 36 4 0 0 46
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 10 29 4 0 0 0 0 42
OMIM 41 0 0 0 0 0 0 41
Institute of Human Genetics, University of Leipzig Medical Center 10 12 15 1 1 0 0 39
ClinPGx 0 0 0 0 0 38 0 38
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 12 23 0 0 0 0 37
Molecular Genetics, Royal Melbourne Hospital 9 1 26 1 0 0 0 37
Neuberg Centre For Genomic Medicine, NCGM 6 4 27 0 0 0 0 37
Mendelics 6 5 12 0 13 0 0 36
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 9 7 11 3 4 0 0 34
Clinical Genetics, Academic Medical Center 0 0 0 3 30 0 0 33
MGZ Medical Genetics Center 6 8 19 0 0 0 0 33
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 13 16 0 0 0 0 32
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 32 32
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 6 13 13 0 0 0 0 32
Variantyx, Inc. 12 18 0 0 0 0 0 30
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 3 4 9 9 0 0 27
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 6 14 0 0 0 0 27
Juno Genomics, Hangzhou Juno Genomics, Inc 6 13 7 0 0 0 0 26
Genome-Nilou Lab 0 0 0 0 25 0 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 9 12 2 0 0 23
Pediatric Department, Peking University First Hospital 4 16 3 0 0 0 0 23
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 15 1 0 0 0 20
Kariminejad - Najmabadi Pathology & Genetics Center 3 11 5 0 0 0 0 19
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 9 4 0 0 0 0 18
AiLife Diagnostics, AiLife Diagnostics 5 9 3 0 0 0 0 17
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 11 6 0 0 0 0 0 17
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 7 6 0 0 0 14
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 12 0 2 0 0 14
Institute of Human Genetics Munich, TUM University Hospital 9 5 0 0 0 0 0 14
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 3 0 9 1 0 0 14
Dasa 10 1 1 1 0 0 0 13
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 13 13
GenomeConnect, ClinGen 0 0 0 0 0 0 13 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 0 6 0 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 7 1 0 0 0 12
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 1 6 2 0 0 0 11
Cirak Lab, University Hospital Cologne 4 7 0 0 0 0 0 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 2 3 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 7 0 0 10
Clinical Genetics Laboratory, Skane University Hospital Lund 4 1 4 0 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 3 1 5 0 0 0 0 9
Institute of Human Genetics, University of Wuerzburg 0 3 6 0 0 0 0 9
Clinical Genetics and Genomics, Karolinska University Hospital 0 8 0 0 0 0 0 8
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 5 2 1 0 0 0 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 6 0 0 0 0 8
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 2 4 0 0 0 0 7
Institute of Immunology and Genetics Kaiserslautern 4 1 2 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 3 0 0 0 0 0 7
MVZ Medizinische Genetik Mainz 0 0 7 0 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 2 3 1 0 0 0 0 6
Dubai Health Genomic Medicine Center, Dubai Health 1 1 3 1 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 5 0 0 0 0 6
Center for Genetic Medicine Research, Children's National Medical Center 0 4 1 0 0 0 0 5
Human Genetics Bochum, Ruhr University Bochum 0 4 1 0 0 0 0 5
Undiagnosed Diseases Network, NIH 0 2 3 0 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 3 0 0 0 0 5
deCODE genetics, Amgen 1 4 0 0 0 0 0 5
Arcensus 0 2 2 0 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 2 0 0 0 0 4
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 2 2 0 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 1 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 0 3 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 0 0 1 0 0 0 4
Department of Human Genetics, Hannover Medical School 2 0 2 0 0 0 0 4
Dept of Medical Biology, Uskudar University 0 0 4 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 2 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 1 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 2 2 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 0 4
Suma Genomics 2 1 1 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 2 0 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 3 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 2 0 0 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 0 2 1 0 0 0 0 3
Department of Molecular Genetics, Istishari Arab Hospital 0 3 0 0 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 1 0 0 0 0 3
Genetics Department, Hospital De La Santa Creu I Sant Pau 0 3 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 1 0 0 0 0 3
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 3 0 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 3
New York Genome Center 0 1 2 0 0 0 0 3
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 1 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 1 1 0 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 0 0 0 0 2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 1 1 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 1 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 0 0 2
Laboratory Cellgenetics, GMDL Cellgenetics 0 2 0 0 0 0 0 2
Leeds Institute of Medical Research, University of Leeds 0 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 0 2
NHS Central & South Genomic Laboratory Hub 0 1 1 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 1 1 0 0 0 0 2
Prenatal Diagnosis Unit, University Medical Center at Ho Chi Minh City, University of Medicine and Pharmacy at Ho Chi Minh City 1 1 0 0 0 0 0 2
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 1 1 0 0 0 0 0 2
Bionano Laboratories 1 0 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 1

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