ClinVar Miner

Variants studied for Congenital myopathy with fiber type disproportion

Coded as:
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 not provided total
12 22 160 18 37 26 272

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 3 109 15 22 8 157
ACTA1 1 3 14 3 13 7 40
RYR1 4 6 21 0 0 8 39
MYH7 0 4 5 0 0 1 10
SELENON 4 2 2 0 0 1 8
ACTA1, LOC122152321 0 0 1 0 2 0 3
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 0 120 18 35 0 173
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
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Harry Perkins Institute Of Medical Research, University Of Western Australia 0 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Pediatric Department, Peking University First Hospital 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
DASA 1 0 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

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