ClinVar Miner

Variants studied for X-linked centronuclear myopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
146 38 47 43 22 288

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
MTM1 144 38 46 43 22 285
DNM2 2 0 0 0 0 2
CD99L2, GPR50, HMGB3, MTM1, MTMR1, VMA21 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 34 11 40 43 21 149
Genetic Services Laboratory, University of Chicago 117 16 5 0 0 138
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 12 0 1 0 0 13
OMIM 12 0 0 0 0 12
Myriad Women's Health, Inc. 0 8 0 0 0 8
Natera, Inc. 0 0 1 2 3 6
Baylor Genetics 2 1 0 0 0 3
Mendelics 2 0 0 0 1 3
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1

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