ClinVar Miner

Variants studied for Miyoshi muscular dystrophy 3

Included ClinVar conditions (3):
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 affects not provided total
14 2 1 0 0 1 3 20

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance affects not provided total
ANO5 14 2 1 1 3 20

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance affects not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 1 0 0 0 8
Fulgent Genetics 4 0 0 0 0 4
OMIM 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 3 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 1 0 2
GeneReviews 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1

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