ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.192+7G>A

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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 RCV002904794 SCV003260863 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-09-08 criteria provided, single submitter clinical testing

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