ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8371A>T (p.Lys2791Ter)

dbSNP: rs2147175318
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001782155 SCV002504146 likely pathogenic not provided 2019-01-07 criteria provided, single submitter clinical testing Based on the understanding of this genetic alteration, it may be amenable to nonsense read-through therapy that is currently available or in clinical trial; This variant is associated with the following publications: (PMID: 26886021, 25525159, 19937601, 16049303)

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