ClinVar Miner

Variants studied for Distal myopathy Markesbery-Griggs type

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
13 32 718 242 3 3 1010

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 13 32 713 231 3 3 994
LOC101927055, TTN 0 0 5 11 0 0 16

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 707 241 1 0 949
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 29 1 0 0 0 33
Phosphorus, Inc. 0 0 10 1 2 0 13
GeneReviews 8 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 1

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