ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) (rs148055736)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244684 SCV000309687 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725538 SCV000337598 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV000648030 SCV000769840 likely benign Dysferlinopathy 2017-11-28 criteria provided, single submitter clinical testing

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