ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.132G>A (p.Glu44=)

dbSNP: rs2151098887
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 RCV001471381 SCV001675485 likely benign Congenital myasthenic syndrome 4A 2023-02-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826301 SCV002087533 likely benign Congenital myasthenic syndrome 2021-07-28 no assertion criteria provided clinical testing

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