ClinVar Miner

Variants studied for congenital fiber-type disproportion myopathy

Included ClinVar conditions (13):
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
51 76 751 166 73 34 1131

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RYR1 16 33 401 34 21 15 517
TPM3 12 12 168 88 26 8 303
MYH7 12 12 97 27 5 2 155
ACTA1 2 4 14 4 13 7 42
LOC126861897, MHRT, MYH7 0 1 24 2 2 1 30
SELENON 6 6 6 1 0 1 17
MHRT, MYH7 0 1 12 3 1 0 16
LOC126862902, RYR1 0 1 8 1 3 0 13
LOC126861898, MYH7 1 5 6 0 0 0 12
LOC129391106, RYR1 0 0 4 3 0 0 7
LOC130064357, RYR1 0 0 5 0 0 0 5
LOC126861897, MYH7 0 0 3 1 0 0 4
TPM2 0 0 2 2 0 0 4
ACTA1, LOC122152321 0 0 1 0 2 0 3
MYL2 1 1 0 0 0 0 2
MTM1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 28 42 542 76 32 0 720
Illumina Laboratory Services, Illumina 0 0 120 18 35 0 173
Labcorp Genetics (formerly Invitae), Labcorp 11 10 60 72 5 0 158
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 4 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Undiagnosed Diseases Network, NIH 0 3 0 0 0 0 3
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
GenomeConnect, ClinGen 0 0 0 0 0 2 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
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
Breda Genetics srl 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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 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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