ClinVar Miner

Variants in gene SELENON

Minimum submission review status: Collection method:
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Gene type:
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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
51 23 197 106 52 388

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Eichsfeld type congenital muscular dystrophy 43 13 113 34 20 222
SEPN1-Related Disorders 2 1 69 19 20 111
not provided 20 6 40 20 25 109
not specified 0 0 5 47 15 61
Congenital myopathy with fiber type disproportion 2 1 2 0 0 5
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 2 3 1 0 0 5
See cases 1 1 1 0 0 3
Muscular dystrophy 2 0 0 0 0 2
Joint laxity; EMG abnormality; EMG: myopathic abnormalities; Pain 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 37 11 111 48 18 225
Illumina Clinical Services Laboratory,Illumina 2 1 69 19 20 111
GeneDx 12 5 11 34 27 89
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 10 0 24 2 8 44
PreventionGenetics, PreventionGenetics 0 0 0 18 13 31
CeGaT Praxis fuer Humangenetik Tuebingen 6 0 10 0 0 16
Athena Diagnostics Inc 2 1 4 2 6 15
Genetic Services Laboratory, University of Chicago 1 1 3 3 4 12
OMIM 9 0 0 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 0 0 6 9
Baylor Genetics 1 1 2 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 3
Undiagnosed Diseases Network,NIH 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
GeneReviews 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 1

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