ClinVar Miner

Variants in gene combination GLA, RPL36A-HNRNPH2

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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 other not provided total
872 565 577 300 53 46 1 71 2030

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Fabry disease 843 489 501 244 32 0 1 6 1865
not provided 185 108 122 49 35 0 1 1 445
Cardiovascular phenotype 26 34 70 50 3 0 0 0 180
not specified 0 0 50 42 16 0 0 1 97
Migalastat response 0 0 0 0 0 46 0 0 46
GLA-related disorder 9 3 14 14 0 0 0 0 40
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 0 36 36
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 0 24 24
Cardiomyopathy 3 2 10 5 3 0 0 0 23
Fabry disease, cardiac variant 6 1 1 0 0 0 0 0 8
Hypertrophic cardiomyopathy 1 1 0 2 2 0 0 0 5
Primary familial hypertrophic cardiomyopathy 1 2 1 0 0 0 0 0 4
Fabry disease; Hypertrophic cardiomyopathy 2 1 0 0 0 0 0 0 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 0 3 3
Hereditary coproporphyria 0 1 1 0 0 0 0 0 2
Hypertrophic cardiomyopathy 1 0 0 2 0 0 0 0 0 2
Charcot-Marie-Tooth disease 0 0 1 0 0 0 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 0 0 1 0 0 0 0 0 1
Melanoma 0 0 0 0 0 0 0 1 1
Nephrotic syndrome 0 1 0 0 0 0 0 0 1
RPL36A-HNRNPH2-related disorder 0 0 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 0 0 1
Steroid-resistant nephrotic syndrome 0 0 1 0 0 0 0 0 1
Sudden unexplained death 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 110
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Genomenon, Inc, Genomenon, Inc 705 352 262 16 21 0 0 0 1356
Labcorp Genetics (formerly Invitae), Labcorp 229 69 234 199 11 0 1 0 743
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 109 62 37 15 5 0 0 0 228
Eurofins Ntd Llc (ga) 124 25 39 1 8 0 1 0 198
GeneDx 49 25 37 46 37 0 0 0 194
Revvity Omics, Revvity 78 55 54 1 0 0 0 0 188
Color Diagnostics, LLC DBA Color Health 10 6 88 69 6 0 0 0 179
Ambry Genetics 24 31 67 50 3 0 0 0 175
Genome-Nilou Lab 79 24 43 15 10 0 0 0 171
All of Us Research Program, National Institutes of Health 10 5 72 20 0 0 0 0 107
Natera, Inc. 9 7 38 10 4 0 0 0 68
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 0 63 63
OMIM 57 0 2 0 0 0 0 0 59
Fulgent Genetics, Fulgent Genetics 18 8 17 5 1 0 0 0 49
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 7 18 13 5 0 0 1 49
PreventionGenetics, part of Exact Sciences 9 3 14 18 5 0 0 0 49
Albrecht-Kossel-Institute, Medical University Rostock 21 9 16 0 0 46 0 0 46
3billion 11 13 9 2 0 0 0 0 35
CeGaT Center for Human Genetics Tuebingen 7 5 8 12 1 0 0 0 33
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 18 5 0 0 0 0 28
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 4 5 9 5 3 0 0 0 26
Mayo Clinic Laboratories, Mayo Clinic 3 3 6 3 8 0 0 0 23
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 3 2 10 5 2 0 0 0 22
Breakthrough Genomics, Breakthrough Genomics 0 0 0 6 10 0 0 0 16
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 10 6 0 0 0 0 0 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 1 1 6 5 0 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 7 6 0 0 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 10 3 0 0 0 15
Mendelics 6 3 2 3 1 0 0 0 15
Clinical Genetics, Academic Medical Center 3 0 0 1 9 0 0 0 13
Illumina Laboratory Services, Illumina 0 1 1 5 4 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 1 5 0 0 0 10
Blueprint Genetics 3 3 3 0 0 0 0 0 9
Clinical Genetics Laboratory, Skane University Hospital Lund 4 1 3 1 0 0 0 0 9
Gharavi Laboratory, Columbia University 2 1 4 1 0 0 0 0 8
CeMIA 2 4 1 0 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 6 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 2 1 0 0 0 0 7
Myriad Genetics, Inc. 1 5 0 0 0 0 0 0 6
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 1 4 0 0 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 1 1 1 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 2 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 2 0 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 0 0 0 4
Variantyx, Inc. 1 3 0 0 0 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 2 1 0 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 0 1 0 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 0 0 3
Cohesion Phenomics 0 0 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 0 3 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 0 0 3
MVZ Martinsried, Medicover Genetics 2 0 1 0 0 0 0 0 3
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 1 0 0 0 0 2
Baylor Genetics 2 0 0 0 0 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 1 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 0 0 2
Counsyl 1 1 0 0 0 0 0 0 2
Dasa 2 0 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 1 0 0 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 2 0 0 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 0 0 2
Athena Diagnostics 0 0 1 0 0 0 0 0 1
Biochemistry Metabolomics and Proteomics Laboratory, Necker Enfants Malades Hospital 0 1 0 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 0 0 1
Center for Inherited Cardiovascular Diseases, IRCCS Fondazione Policlinico San Matteo 1 0 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 0 0 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 1
First Hospital of Lanzhou University, Lanzhou University 0 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 0 0 1 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 0 1
Kidney and Pancreas Transplant Center, University of Texas at Austin 0 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 1
Nephrology Department, Antalya Training and Research Hospital 0 1 0 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 0 0 0 0 1 0 0 0 1
Stanford Starfish Project, Stanford University 1 0 0 0 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 1 0 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 0 1

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