ClinVar Miner

Variants in gene combination COL6A2, FTCD

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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 total
1 0 4 14 12 19

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic uncertain significance likely benign benign total
Collagen VI-related myopathy 0 0 8 9 17
Myosclerosis 0 0 8 9 17
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 0 4 9 3 16
not specified 0 0 2 7 7
not provided 0 0 0 4 4
Bethlem myopathy 1 0 0 0 3 3
See cases 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 4 14 9 17
PreventionGenetics 0 0 1 6 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 7 7
Genetic Services Laboratory, University of Chicago 0 0 2 4 6
GeneDx 1 0 0 5 6
Athena Diagnostics Inc 0 0 0 4 4
Invitae 0 0 0 3 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 1 1

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