ClinVar Miner

Submissions for variant NC_000017.10:g.(?_4805539)_(4806690_?)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 RCV001922513 SCV002176950 pathogenic Congenital myasthenic syndrome 4A 2021-09-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. This variant results in the deletion of exons 1-3 and part of exon 4 (c.-332_317del) of the CHRNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886).

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