ClinVar Miner

Variants in gene SYNE2

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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
3 12 2989 1671 620 124 4827

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2 9 2345 1412 415 9 3945
not specified 0 0 957 180 119 0 1195
not provided 0 2 298 230 353 3 825
SYNE2-related disorder 0 0 29 64 33 0 126
Ovarian serous cystadenocarcinoma 0 0 0 0 0 21 21
Cervical cancer 0 0 0 0 0 16 16
Malignant tumor of esophagus 0 0 0 0 0 14 14
Acute myeloid leukemia 0 0 0 0 0 11 11
Gastric cancer 0 0 0 0 0 11 11
Familial cancer of breast 0 0 0 0 0 9 9
Sarcoma 0 0 0 0 0 9 9
Uterine corpus endometrial carcinoma 0 0 0 0 0 9 9
Thymoma 0 0 0 0 0 8 8
Lung cancer 0 0 0 0 0 7 7
Nonpapillary renal cell carcinoma 0 0 0 0 0 7 7
Colon adenocarcinoma 0 0 0 0 0 6 6
Malignant tumor of urinary bladder 0 0 0 0 0 5 5
See cases 0 0 5 0 0 0 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Melanoma 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Pancreatic adenocarcinoma 0 0 0 0 0 2 2
Primary dilated cardiomyopathy 0 0 2 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Cerebral palsy 1 0 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Restrictive cardiomyopathy; Long QT syndrome 0 0 1 0 0 0 1
Spastic ataxia 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 2012 1344 252 0 3608
Ambry Genetics 0 0 899 69 0 0 968
Illumina Laboratory Services, Illumina 0 0 141 62 290 0 493
Revvity Omics, Revvity 0 0 373 32 2 0 407
GeneDx 0 0 4 31 256 0 291
Breakthrough Genomics, Breakthrough Genomics 0 0 16 54 184 0 254
CeGaT Center for Human Genetics Tuebingen 0 1 59 153 40 0 253
Eurofins Ntd Llc (ga) 0 0 153 29 36 0 218
Athena Diagnostics 0 0 89 30 79 0 198
PreventionGenetics, part of Exact Sciences 0 0 29 64 33 0 126
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 112 112
Genetic Services Laboratory, University of Chicago 0 0 3 45 29 0 77
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 54 22 0 0 76
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 12 23 0 35
Clinical Genetics, Academic Medical Center 0 0 0 3 27 0 30
Genome-Nilou Lab 0 0 0 0 24 0 24
Fulgent Genetics, Fulgent Genetics 0 0 12 10 1 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 12 5 3 0 20
Baylor Genetics 0 0 12 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 9 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 7 4 0 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 9 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 0 9 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 1 1 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 3 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 7 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 5 1 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 6 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 4 2 0 6
Blueprint Genetics 0 0 3 2 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 2 0 0 4
Human Genetics Bochum, Ruhr University Bochum 0 3 1 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 1 0 3
ISCA site 1 0 0 3 0 0 0 3
Mendelics 0 0 1 0 2 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 0 1 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 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, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 0 0 0 0 1 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 0 1
OMIM 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Seelig Lab, University of Washington 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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