ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2479G>T (p.Glu827Ter)

dbSNP: rs794727323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176079 SCV000227674 pathogenic not provided 2015-06-04 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814089 SCV001755578 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing

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