ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.750A>G (p.Leu250=)

gnomAD frequency: 0.00022  dbSNP: rs146874807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946323 SCV001092446 likely benign Myasthenic syndrome, congenital, 22 2023-09-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960580 SCV004768893 likely benign PREPL-related disorder 2024-02-09 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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