ClinVar Miner

Variants in gene SELENON

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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 not provided total
83 43 306 255 80 1 684

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Eichsfeld type congenital muscular dystrophy 72 32 218 177 28 0 499
not provided 25 13 54 49 54 0 182
SEPN1-Related Disorders 2 1 69 19 20 0 111
not specified 0 0 10 43 15 0 62
Inborn genetic diseases 0 0 14 0 0 0 14
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 3 4 4 1 0 0 11
SELENON-related condition 0 0 2 7 2 0 11
Congenital myopathy with fiber type disproportion 4 2 2 0 0 1 8
See cases 1 2 3 0 0 0 6
Congenital myopathy 4A, autosomal dominant 1 1 1 0 0 0 3
Abnormality of the musculature 1 1 0 0 0 0 2
Muscular dystrophy 2 0 0 0 0 0 2
Eichsfeld type congenital muscular dystrophy; Congenital myopathy 4A, autosomal dominant 0 1 0 0 0 0 1
Joint laxity; EMG abnormality; EMG: myopathic abnormalities; Pain 0 0 1 0 0 0 1
SELENON-related myopathy 1 0 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 58 10 194 181 26 0 469
GeneDx 14 10 22 60 56 0 162
Illumina Laboratory Services, Illumina 2 1 69 19 20 0 111
Revvity Omics, Revvity 8 3 42 1 0 0 54
Eurofins Ntd Llc (ga) 10 0 24 2 8 0 44
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 12 17 14 0 0 0 43
PreventionGenetics, part of Exact Sciences 0 0 2 24 15 0 41
CeGaT Center for Human Genetics Tuebingen 8 0 13 7 2 0 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 7 5 1 0 0 20
Athena Diagnostics Inc 2 1 5 2 6 0 16
Ambry Genetics 0 0 14 0 0 0 14
OMIM 13 0 0 0 0 0 13
Genetic Services Laboratory, University of Chicago 1 1 3 3 4 0 12
Fulgent Genetics, Fulgent Genetics 3 2 4 1 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 6 0 9
Mayo Clinic Laboratories, Mayo Clinic 2 1 6 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 4 0 6
Clinical Genetics, Academic Medical Center 0 0 0 1 5 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 4 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 2 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
MGZ Medical Genetics Center 3 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 3 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
Undiagnosed Diseases Network, NIH 0 3 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 1 1 0 0 0 0 2
3billion 1 0 1 0 0 0 2
DASA 2 0 0 0 0 0 2
Mendelics 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Research Center for Molecular Medicine, Hamadan University of medical science 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Pediatrics Department, Azienda Ospedaliero-Universitaria Policlinico San Marco 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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