ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.189C>T (p.Cys63=)

gnomAD frequency: 0.00011  dbSNP: rs372989037
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000242535 SCV000316524 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000872064 SCV001013821 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001576597 SCV001803820 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing

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