ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.802+9T>C

dbSNP: rs199876621
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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 RCV001450258 SCV001653860 likely benign Congenital myasthenic syndrome 4A 2024-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832108 SCV002093413 likely benign Congenital myasthenic syndrome 2020-10-30 no assertion criteria provided clinical testing

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