ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1135G>C (p.Asp379His)

gnomAD frequency: 0.00032  dbSNP: rs140165185
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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 RCV000874533 SCV001016723 likely benign Myasthenic syndrome, congenital, 22 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930415 SCV004742387 likely benign PREPL-related disorder 2020-04-24 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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