ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1098C>T (p.Ala366=)

gnomAD frequency: 0.00001  dbSNP: rs778313885
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877173 SCV001019868 likely benign Congenital myasthenic syndrome 4A 2023-12-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704257 SCV005217977 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001830927 SCV002093390 likely benign Congenital myasthenic syndrome 2020-02-10 no assertion criteria provided clinical testing

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