ClinVar Miner

Submissions for variant NM_004409.5(DMPK):c.*224_*226CTG[352]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Molecular, Cell and Systems Biology, University of Glasgow RCV000167684 SCV000207500 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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