ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.216T>G (p.Thr72=)

dbSNP: rs763887744
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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 RCV003835307 SCV004630731 likely benign Congenital myasthenic syndrome 4A 2024-04-01 criteria provided, single submitter clinical testing

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