ClinVar Miner

Variants studied for MYH7-related skeletal myopathy

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
23 8 59 33 59 6 187

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYH7 8 4 44 25 46 3 130
LOC126861897, MHRT, MYH7 10 1 6 1 5 2 24
MHRT, MYH7 4 1 5 2 4 1 17
LOC126861898, MYH7 1 1 1 3 2 0 8
LOC126861897, MYH7 0 1 2 0 1 0 4
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 48 33 58 0 139
Baylor Genetics 6 3 6 0 0 0 15
Neurogenetics Laboratory, Royal Perth Hospital 13 0 0 0 0 0 13
GeneReviews 0 0 0 0 0 6 6
OMIM 4 0 0 0 0 0 4
Phosphorus, Inc. 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Mendelics 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 0 0 0 0 1

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