ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter)

dbSNP: rs398123954
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727593 SCV000854840 pathogenic not provided 2017-11-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000727593 SCV002022151 pathogenic not provided 2020-07-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466992 SCV004193999 pathogenic Becker muscular dystrophy 2023-03-22 criteria provided, single submitter clinical testing

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