ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.357G>A (p.Gln119=)

gnomAD frequency: 0.00001  dbSNP: rs747638974
Minimum review status: Collection method:
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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 RCV001482485 SCV001686859 likely benign Congenital myasthenic syndrome 4A 2023-02-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278504 SCV001465519 uncertain significance Congenital myasthenic syndrome 2020-08-13 no assertion criteria provided clinical testing

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