ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.54+32_54+33insCGCGG

dbSNP: rs1485695721
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002091452 SCV002390567 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-10-23 criteria provided, single submitter clinical testing

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