ClinVar Miner

Submissions for variant NC_000017.11:g.(?_4898726)_(4948404_?)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 RCV001033817 SCV001197124 pathogenic Congenital myasthenic syndrome 4A 2019-10-24 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CHRNE gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with CHRNE-related conditions. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). For these reasons, this variant has been classified as Pathogenic.

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