ClinVar Miner

Variants in gene DMPK

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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
6 0 5 4 1 16

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic uncertain significance likely benign benign total
Steinert myotonic dystrophy syndrome 6 1 0 1 8
not specified 0 1 3 1 5
Catecholaminergic polymorphic ventricular tachycardia type 1 0 1 0 0 1
Myotonic dystrophy 0 1 0 0 1
Noonan syndrome 0 1 0 0 1
not provided 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 0 0 2 1 3
Blueprint Genetics 0 2 1 0 3
Institute of Molecular, Cell and Systems Biology, University of Glasgow 3 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 0 0 2
Medical Genetics Section,University of Rome Tor Vergata 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1

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