ClinVar Miner

Variants studied for Congenital myopathy with fiber type disproportion

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
12 22 146 11 26 26 240

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TPM3 1 3 99 10 12 8 132
RYR1 4 6 21 0 0 8 39
ACTA1 1 3 11 1 12 7 34
MYH7 0 4 5 0 0 1 10
SELENON 4 2 2 0 0 1 8
ACTA1, LOC122152321 0 0 0 0 2 0 2
LOC126861897, MHRT, MYH7 0 0 1 0 0 1 2
LOC126861898, MYH7 0 2 0 0 0 0 2
LOC126862902, RYR1 0 1 1 0 0 0 2
MHRT, MYH7 0 0 2 0 0 0 2
MYL2 1 1 0 0 0 0 2
TPM2 0 0 2 0 0 0 2
LOC129391106, RYR1 0 0 1 0 0 0 1
LOC130064357, RYR1 0 0 1 0 0 0 1
MTM1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 106 11 24 0 141
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 12 32 0 0 0 46
GeneReviews 0 0 0 0 0 26 26
Baylor Genetics 1 0 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Harry Perkins Institute Of Medical Research, University Of Western Australia 0 1 1 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 1 0 0 0 0 0 1
Pediatric Department, Peking University First Hospital 1 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

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