ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.355C>T (p.Gln119Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141437 SCV003818631 likely pathogenic not provided 2022-02-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466021 SCV004214283 pathogenic Congenital myasthenic syndrome 4A 2024-03-14 criteria provided, single submitter clinical testing

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