ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1220-4C>T

gnomAD frequency: 0.00001  dbSNP: rs201553105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209144 SCV001380567 likely benign Congenital myasthenic syndrome 4A 2023-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828678 SCV002093383 uncertain significance Congenital myasthenic syndrome 2020-11-02 no assertion criteria provided clinical testing

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