ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.726C>T (p.Phe242=)

gnomAD frequency: 0.00006  dbSNP: rs150133823
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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 RCV001476894 SCV001681113 likely benign Congenital myasthenic syndrome 4A 2024-12-23 criteria provided, single submitter clinical testing

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