ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1620G>A (p.Trp540Ter)

dbSNP: rs1569230389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733353 SCV000861409 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing
GeneDx RCV000733353 SCV002504167 pathogenic not provided 2016-12-23 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: 15643612, 19937601, 32962870)

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