ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.690C>T (p.Pro230=) (rs376293526)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247945 SCV000309702 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725510 SCV000337411 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV000648028 SCV000769838 likely benign Dysferlinopathy 2017-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000725510 SCV000983966 likely benign not provided 2018-04-13 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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