ClinVar Miner

Variants in gene SYNE1

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Minimum submission review status: Collection method:
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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
80 51 1573 782 440 1 2465

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 43 36 1196 438 391 0 1894
not specified 0 0 133 352 173 0 548
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 8 3 380 23 23 0 437
Cerebellar ataxia 0 0 113 220 45 0 378
Emery-Dreifuss muscular dystrophy 0 0 113 220 45 0 378
Spinocerebellar ataxia, autosomal recessive 8 31 6 16 1 2 1 57
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 4 2 5 0 0 0 11
SYNE1-Related Disorders 0 1 6 0 0 0 7
ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE 2 0 0 0 0 0 2
Abnormality of brain morphology 0 2 0 0 0 0 2
Intellectual functioning disability 0 0 2 0 0 0 2
Autosomal recessive cerebellar ataxia 0 1 0 0 0 0 1
Autosomal recessive myogenic arthrogryposis multiplex congenita 0 0 1 0 0 0 1
Cardiomyopathy 0 0 1 0 0 0 1
EMG: myopathic abnormalities; Shoulder girdle muscle weakness 0 0 1 0 0 0 1
Ependymoma 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 25 4 1004 63 60 0 1156
Invitae 9 3 374 356 132 0 874
GeneDx 7 13 81 308 319 0 728
Athena Diagnostics Inc 13 12 266 69 122 0 482
Illumina Clinical Services Laboratory,Illumina 0 1 121 220 45 0 387
PreventionGenetics,PreventionGenetics 0 0 0 35 72 0 107
Genetic Services Laboratory, University of Chicago 8 1 16 69 2 0 96
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 72 8 0 0 88
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 26 17 7 0 51
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 2 13 0 0 0 19
OMIM 14 0 4 0 0 0 18
Fulgent Genetics,Fulgent Genetics 1 0 12 0 0 0 13
Mendelics 0 0 3 1 2 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 4 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 2 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 2 1 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 1 0 2
Blueprint Genetics 0 0 1 1 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 0 1
Institute of Experimental Medicine, Department of Genetics,Istanbul University 1 0 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1

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