ClinVar Miner

Variants studied for Qualitative or quantitative defects of dysferlin

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
415 116 794 1914 139 1 3216

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DYSF 413 113 791 1897 138 0 3190
DYSF, LOC122787137 1 3 3 17 1 1 25
DYSF, LOC110121121 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 411 104 625 1898 138 0 3176
Illumina Laboratory Services, Illumina 5 1 186 18 12 0 222
Jain Foundation 2 9 0 0 0 0 11
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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