ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1467G>A (p.Ala489=)

gnomAD frequency: 0.00010  dbSNP: rs140525819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001411713 SCV001613778 likely benign Myasthenic syndrome, congenital, 22 2023-02-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900412 SCV004712884 likely benign PREPL-related disorder 2023-04-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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