ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2788A>G (p.Lys930Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004528567 SCV004105685 uncertain significance DMD-related disorder 2023-06-08 criteria provided, single submitter clinical testing The DMD c.2788A>G variant is predicted to result in the amino acid substitution p.Lys930Glu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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