ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.54+33del

dbSNP: rs71180187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001429092 SCV001631803 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001720287 SCV001947908 benign not provided 2019-10-21 criteria provided, single submitter clinical testing

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