ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.3344T>C (p.Ile1115Thr) (rs748123444)

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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 RCV000176556 SCV000228231 uncertain significance not provided 2014-08-11 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766088 SCV000897563 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2018-10-31 criteria provided, single submitter clinical testing

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