ClinVar Miner

Submissions for variant NM_000080.3(CHRNE):c.1416C>T (p.Leu472=) (rs145456588)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641749 SCV000763397 benign Myasthenic syndrome, congenital, 4a, slow-channel 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000250316 SCV000301934 likely benign not specified criteria provided, single submitter clinical testing

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