ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1243_1340del (p.Pro415fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466219 SCV004194055 likely pathogenic Fetal akinesia deformation sequence 3 2023-02-01 criteria provided, single submitter clinical testing

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