ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1032+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust RCV003326035 SCV003853418 pathogenic Congenital myasthenic syndrome 4C 2023-03-23 criteria provided, single submitter clinical testing

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