ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs)

dbSNP: rs1553850100
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502556 SCV000594398 pathogenic Congenital myasthenic syndrome 10 2015-11-10 criteria provided, single submitter clinical testing

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