ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.15G>A (p.Pro5=)

gnomAD frequency: 0.00004  dbSNP: rs756933520
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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 RCV001394953 SCV001596651 likely benign Congenital myasthenic syndrome 4A 2023-12-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826190 SCV002087541 likely benign Congenital myasthenic syndrome 2021-09-22 no assertion criteria provided clinical testing

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