ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.331+9C>T (rs370879328)

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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 RCV000724336 SCV000229279 uncertain significance not provided 2014-12-20 criteria provided, single submitter clinical testing
Invitae RCV000549122 SCV000640963 likely benign Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 2017-08-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243798 SCV000316530 likely benign not specified criteria provided, single submitter clinical testing

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