ClinVar Miner

Variants studied for Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1

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
0 1 6 0 21 1 29

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination likely pathogenic uncertain significance benign not provided total
COL6A3 1 0 13 0 14
COL6A1 0 5 8 0 13
COL6A2 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 5
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Submitter likely pathogenic uncertain significance benign not provided total
Athena Diagnostics Inc 0 0 21 0 21
Fulgent Genetics,Fulgent Genetics 0 4 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 2 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1

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