ClinVar Miner

Submissions for variant NM_004409.5(DMPK):c.*224_*226CTG[46]

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular Research,Maastricht University Medical Centre RCV000167707 SCV001156439 pathogenic Steinert myotonic dystrophy syndrome 2019-11-26 criteria provided, single submitter clinical testing
Institute of Molecular, Cell and Systems Biology, University of Glasgow RCV000167707 SCV000207523 pathogenic Steinert myotonic dystrophy syndrome no assertion criteria provided research DMPK CTG repeat expansions greater than approximately 45-50 repeats are assumed to be pathogenic

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