ClinVar Miner

Variants in gene SYNE2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 7 2218 1310 610 5 3717

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2 4 1898 1144 407 4 3231
not provided 0 2 255 138 311 1 664
Inborn genetic diseases 0 0 264 16 0 0 280
not specified 0 0 37 84 103 0 192
SYNE2-related condition 0 0 18 60 33 0 111
Emery-Dreifuss muscular dystrophy 0 0 7 3 0 0 10
See cases 0 0 5 0 0 0 5
Primary dilated cardiomyopathy 0 0 2 0 0 0 2
Cerebral palsy 1 0 0 0 0 0 1
Obstructive sleep apnea syndrome; Obesity; Cardiomyopathy; Glaucoma; Muscle weakness; Specific learning disability; Panhypopituitarism; Generalized hypotonia; Gastroesophageal reflux; Limb-girdle muscle weakness 0 0 1 0 0 0 1
Restrictive cardiomyopathy; Long QT syndrome 0 0 1 0 0 0 1
Spastic ataxia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 1600 1085 244 0 2929
Illumina Laboratory Services, Illumina 0 0 148 65 290 0 503
Revvity Omics, Revvity 0 0 322 17 0 0 339
GeneDx 0 0 4 26 256 0 286
Ambry Genetics 0 0 264 16 0 0 280
Eurofins Ntd Llc (ga) 0 0 153 29 36 0 218
CeGaT Center for Human Genetics Tuebingen 0 1 48 86 40 0 175
Athena Diagnostics Inc 0 0 71 23 61 0 155
PreventionGenetics, part of Exact Sciences 0 0 18 60 33 0 111
Genetic Services Laboratory, University of Chicago 0 0 3 45 29 0 77
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 5 10 1 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 11 1 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 9 0 12
Baylor Genetics 0 0 11 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 7 4 0 11
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 9 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 7 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 1 1 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 2 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 5 1 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 1 0 3
Mendelics 0 0 1 0 2 0 3
ISCA site 1 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 3 0 0 0 3
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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Seelig Lab, University of Washington 0 0 0 0 0 1 1
Breda Genetics srl 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1

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