ClinVar Miner

Submissions for variant NM_000109.4(DMD):c.69+5590T>A (rs1557211730)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000593739 SCV000700743 uncertain significance not provided 2017-06-19 criteria provided, single submitter clinical testing
OMIM RCV000012041 SCV000032275 pathogenic Becker muscular dystrophy, atypical 2003-02-01 no assertion criteria provided literature only

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