ClinVar Miner

Variants in gene SYNE1

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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 total
69 35 1426 497 206 1900

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 39 24 1101 41 34 1219
not specified 0 0 147 349 173 555
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 4 0 258 88 108 458
Cerebellar ataxia 0 0 113 220 45 378
Emery-Dreifuss muscular dystrophy 0 0 113 220 45 378
Spinocerebellar ataxia, autosomal recessive 8 32 7 12 0 0 51
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 3 3 4 0 0 10
SYNE1-Related Disorders 0 1 6 0 0 7
ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE 2 0 0 0 0 2
Abnormality of brain morphology 0 2 0 0 0 2
Intellectual functioning disability 0 0 2 0 0 2
Autosomal recessive myogenic arthrogryposis multiplex congenita 0 0 1 0 0 1
Cardiomyopathy 0 0 1 0 0 1
EMG: myopathic abnormalities; Shoulder girdle muscle weakness 0 0 1 0 0 1
Ependymoma 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 25 4 1004 63 60 1156
Invitae 5 0 251 88 108 452
GeneDx 7 11 81 235 105 439
Illumina Clinical Services Laboratory,Illumina 0 1 121 220 45 387
Athena Diagnostics Inc 8 5 216 42 38 309
PreventionGenetics 0 0 0 35 72 107
Genetic Services Laboratory, University of Chicago 8 1 16 69 2 96
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 22 8 6 37
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 13 3 0 21
OMIM 14 0 4 0 0 18
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 2 11 0 0 16
Fulgent Genetics 1 0 12 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 4 0 5
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 1 2
Blueprint Genetics, 0 0 1 1 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 1
Institute of Experimental Medicine, Department of Genetics,Istanbul University 1 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 0 1 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 1 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 1

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