ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5794C>T (p.Gln1932Ter)

dbSNP: rs2097747388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263657 SCV001441749 likely pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy 2019-02-22 criteria provided, single submitter clinical testing
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust RCV001263657 SCV004814232 pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy 2021-03-22 criteria provided, single submitter clinical testing Criteria Codes: PVS1 PM2

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