ClinVar Miner

Variants in gene combination COL6A2, FTCD

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Minimum submission review status: Collection method:
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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 13 13 18

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic uncertain significance likely benign benign total
Collagen 6-related myopathy 0 0 7 9 16
Glutamate formiminotransferase deficiency 0 4 10 3 16
Myosclerosis 0 0 7 9 16
not provided 0 0 1 9 9
Bethlem myopathy 1 0 0 0 7 7
not specified 0 0 2 7 7
FTCD-related condition 0 0 1 1 2
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Myosclerosis 0 0 1 0 1
COL6A2-related condition 0 0 1 0 1
See cases 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 4 13 9 16
GeneDx 1 0 0 11 12
PreventionGenetics, part of Exact Sciences 0 0 3 7 10
Invitae 0 0 1 8 9
Eurofins Ntd Llc (ga) 0 0 0 7 7
Genetic Services Laboratory, University of Chicago 0 0 2 4 6
Athena Diagnostics Inc 0 0 0 4 4
Clinical Genetics, Academic Medical Center 0 0 0 4 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 1

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