ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1033-9C>A

gnomAD frequency: 0.00002  dbSNP: rs1055824191
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341001 SCV001534840 likely benign Congenital myasthenic syndrome 4A 2023-12-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836326 SCV002093396 uncertain significance Congenital myasthenic syndrome 2020-09-21 no assertion criteria provided clinical testing

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