ClinVar Miner

Submissions for variant NC_000019.10:g.45770205_45770264CAG[(15_23)]CAGCAGCGG[(10_14)]CAG[(260_320)]

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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 RCV000754108 SCV000747871 pathogenic Steinert myotonic dystrophy syndrome 2018-03-14 no assertion criteria provided research DMPK CTG repeat expansions greater than approximately 45-50 repeats are assumed to be pathogenic

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