ClinVar Miner

Variants studied for SELENON-related myopathy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
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
81 35 219 178 28 507

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SELENON 73 35 219 178 28 499
HMGCS1 7 0 0 0 0 7
LDLRAP1, MAN1C1, SELENON 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 59 10 194 176 26 465
Revvity Omics, Revvity 8 3 42 1 0 54
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 12 17 14 0 0 43
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 7 0 0 0 14
OMIM 13 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 3 2 4 1 0 10
Harry Perkins Institute Of Medical Research, University Of Western Australia 7 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 5 5
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 4
MGZ Medical Genetics Center 2 1 0 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 2 0 0 2
3billion 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Baylor Genetics 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 0 0 0 0 1 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 Wuerzburg 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Research Center for Molecular Medicine, Hamadan University of medical science 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 1
DASA 1 0 0 0 0 1
Pediatrics Department, Azienda Ospedaliero-Universitaria Policlinico San Marco 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1

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