ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1077G>T (p.Pro359=)

gnomAD frequency: 0.00001  dbSNP: rs907495464
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 RCV001435798 SCV001638626 likely benign Congenital myasthenic syndrome 4A 2023-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278500 SCV001465515 uncertain significance Congenital myasthenic syndrome 2020-08-15 no assertion criteria provided clinical testing

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