ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.858C>T (p.Phe286=)

dbSNP: rs1597618773
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 RCV001468910 SCV001672979 likely benign Congenital myasthenic syndrome 4A 2023-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276704 SCV001463214 uncertain significance Congenital myasthenic syndrome 2020-03-11 no assertion criteria provided clinical testing

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