ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.439del (p.Ala147fs)

dbSNP: rs1577153029
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991420 SCV001142817 likely pathogenic Congenital myasthenic syndrome 10 2019-06-20 criteria provided, single submitter clinical testing

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