ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.66C>T (p.Asn22=)

gnomAD frequency: 0.00031  dbSNP: rs55770091
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 RCV000875714 SCV001018179 likely benign Congenital myasthenic syndrome 4A 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276705 SCV001463217 uncertain significance Congenital myasthenic syndrome 2020-01-17 no assertion criteria provided clinical testing

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