ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.161G>A (p.Arg54His) (rs201818140)

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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 RCV000329116 SCV000337970 uncertain significance not provided 2015-12-24 criteria provided, single submitter clinical testing
Invitae RCV000556488 SCV000640958 likely benign Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 2017-05-26 criteria provided, single submitter clinical testing

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