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
5 1 30 6 3 44

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 0 0 17 1 0 18
Steinert myotonic dystrophy syndrome 5 1 6 0 2 14
not specified 0 0 2 3 2 7
not provided 0 0 2 2 0 4
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 1
Myotonic dystrophy 0 0 1 0 0 1
Noonan syndrome 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 17 1 0 18
Neuromuscular and Neuropediatric Research Group, Germans Trias i Pujol Research Institute 4 1 0 0 0 5
Revvity Omics, Revvity Omics 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 2 1 3
Blueprint Genetics 0 0 2 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 1 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 2
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 1 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1

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