ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.795G>A (p.Pro265=)

gnomAD frequency: 0.00001  dbSNP: rs1567638559
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 RCV000705916 SCV000834936 likely benign Congenital myasthenic syndrome 4A 2023-12-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830564 SCV002093414 uncertain significance Congenital myasthenic syndrome 2020-12-18 no assertion criteria provided clinical testing

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