ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1672del (p.Leu558fs)

dbSNP: rs2052703269
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres RCV001264784 SCV001443086 likely pathogenic Duchenne muscular dystrophy criteria provided, single submitter clinical testing The c.1672del variant has been reported in Leiden Open (source) Variation Database (LOVD) version 3.0 ( https://databases.lovd.nl/shared/variants/0000675153#00000024 ) to be classified as likely pathogenic (recessive) evidence.

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