ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.7447C>T (p.Arg2483Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003138623 SCV003820009 uncertain significance Myopathy, centronuclear, 5 2020-04-01 criteria provided, single submitter clinical testing

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