ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.864C>T (p.Phe288=)

dbSNP: rs1282925982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001503506 SCV001708362 likely benign Congenital myasthenic syndrome 4A 2020-06-25 criteria provided, single submitter clinical testing

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