ClinVar Miner

Variants studied for Myofibrillar myopathy 1

Coded as:
Minimum submission review status: Collection method:
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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
24 9 29 12 13 85

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DES 24 9 27 11 13 82
DES, DES-LCR 0 0 2 1 0 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 24 12 11 47
OMIM 18 0 0 0 0 18
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 3 0 0 0 4
Mendelics 2 0 1 0 1 4
Invitae 2 1 0 0 0 3
Nilou-Genome Lab 0 0 0 0 3 3
Baylor Genetics 1 0 1 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1
Genomics England Pilot Project,Genomics England 0 1 0 0 0 1

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