Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centro de Genética y Biología Molecular, |
RCV001267829 | SCV001441627 | likely pathogenic | Duchenne muscular dystrophy | criteria provided, single submitter | clinical testing | The c.6253del variant has been reported in Leiden Open (source) Variation Database (LOVD) version 3.0 (https://databases.lovd.nl/shared/variants/0000674952#00000024) to be classified as likely pathogenic (recessive) evidence. |