ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1218G>A (p.Thr406=)

dbSNP: rs751373916
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 RCV001068356 SCV001233463 likely benign Congenital myasthenic syndrome 4A 2022-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271736 SCV001453126 uncertain significance Congenital myasthenic syndrome 2020-09-16 no assertion criteria provided clinical testing

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