ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1015_1018del (p.Phe339fs)

dbSNP: rs748639083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001027741 SCV002019511 pathogenic Myasthenic syndrome, congenital, 22 2020-10-28 criteria provided, single submitter clinical testing
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001027741 SCV000993546 pathogenic Myasthenic syndrome, congenital, 22 2019-09-23 no assertion criteria provided clinical testing

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