ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1167-20A>G

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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 RCV003789281 SCV004574803 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2025-01-16 criteria provided, single submitter clinical testing

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