ClinVar Miner

Variants studied for scapuloperoneal myopathy

Included ClinVar conditions (10):
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
28 29 258 56 24 2 392

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYH7 24 18 175 45 17 2 277
LOC126861897, MHRT, MYH7 1 4 34 2 3 0 44
MHRT, MYH7 0 1 18 3 2 0 23
FHL1 2 2 15 1 1 0 21
LOC126861898, MYH7 1 4 10 2 0 0 17
LOC126861897, MYH7 0 0 5 1 0 0 6
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 1
MIR208B, MYH7 0 0 1 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 14 15 148 34 8 0 219
Illumina Laboratory Services, Illumina 0 0 96 27 17 0 140
Baylor Genetics 7 4 7 0 0 0 18
OMIM 6 0 0 0 0 0 6
MGZ Medical Genetics Center 0 2 2 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 1 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 2 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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