ClinVar Miner

Variants studied for Congenital myasthenic syndrome 5

Coded as:
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
62 57 210 152 34 483

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COLQ 62 57 210 152 34 483

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 42 12 159 148 20 381
Illumina Laboratory Services, Illumina 0 0 50 4 14 68
Baylor Genetics 18 35 6 0 0 59
Revvity Omics, Revvity 10 2 30 0 0 42
Fulgent Genetics, Fulgent Genetics 5 7 0 0 0 12
OMIM 10 0 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 1 1 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Mendelics 3 0 0 0 1 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 0 0 0 3
University of Malaya Medical Center, University of Malaya 2 1 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 0 0 0 0 2
3billion, Medical Genetics 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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