ClinVar Miner

Submissions for variant NC_000011.9:g.(?_46880534)_(47470516_?)del

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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 RCV001982909 SCV002243726 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-07-30 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the RAPSN gene has been identified. Loss-of-function variants in RAPSN are known to be pathogenic (PMID: 17686188). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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