ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) (rs144158112)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545345 SCV000640937 likely benign Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 2018-01-04 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660547 SCV000782655 uncertain significance Myasthenia, limb-girdle, familial 2017-06-01 criteria provided, single submitter clinical testing

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