ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.498C>T (p.Phe166=)

dbSNP: rs1230569140
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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 RCV002090809 SCV002372851 likely benign Myasthenic syndrome, congenital, 22 2023-08-14 criteria provided, single submitter clinical testing

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