ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2216+16C>T (rs111389127)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080247 SCV000112142 benign not specified 2012-10-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080247 SCV000309656 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000080247 SCV000519668 benign not specified 2016-02-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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