ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1074G>A (p.Pro358=)

gnomAD frequency: 0.00006  dbSNP: rs745744138
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 RCV001404225 SCV001606122 likely benign Congenital myasthenic syndrome 4A 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278501 SCV001465516 likely benign Congenital myasthenic syndrome 2020-05-02 no assertion criteria provided clinical testing

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