ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.793C>T (p.Pro265Ser)

dbSNP: rs2151097209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249360 SCV002518710 pathogenic Congenital myasthenic syndrome 4A 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV002508342 SCV002817620 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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