ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10364dup (p.Asn3456fs)

dbSNP: rs2040081209
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Obstetrics, Zhejiang Provincial People's Hospital, Zhejiang Provincial People's Hospital RCV001290982 SCV001429694 likely pathogenic Duchenne muscular dystrophy 2020-08-16 criteria provided, single submitter clinical testing The N3456fs variant was found in a female with sustained CK elevation and was absent in 1000 genome database, ESP6500, and genomAD, which could lead to protein truncation. Therefore, the N3456fs variant could at least be classified as likely pathogenic.

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