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
34 16 109 66 42 237

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Eichsfeld type congenital muscular dystrophy 25 6 50 5 15 100
not provided 18 6 34 5 19 81
SEPN1-Related Disorders 2 1 40 13 6 62
not specified 0 0 6 47 15 61
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 1 3 1 0 0 4
Congenital myopathy with fiber type disproportion 2 1 0 0 0 3
Joint laxity; EMG abnormality; EMG: myopathic abnormalities; Pain 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 19 6 48 5 12 90
GeneDx 12 5 11 34 27 89
Illumina Clinical Services Laboratory,Illumina 2 1 40 13 6 62
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 10 0 24 2 8 44
PreventionGenetics 0 0 0 18 13 31
Genetic Services Laboratory, University of Chicago 1 1 3 3 4 12
OMIM 9 0 0 0 0 9
Athena Diagnostics Inc 2 1 3 2 1 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 5 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 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
GeneReviews 1 0 0 0 0 1
Mayo Clinic Genetic Testing 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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