ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1119G>A (p.Ser373=)

dbSNP: rs372862723
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 RCV000930016 SCV001075657 likely benign Congenital myasthenic syndrome 4A 2023-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274714 SCV001459094 uncertain significance Congenital myasthenic syndrome 2020-01-24 no assertion criteria provided clinical testing

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