ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1155C>G (p.Leu385=)

gnomAD frequency: 0.00012  dbSNP: rs149866553
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001504472 SCV001709351 likely benign Myasthenic syndrome, congenital, 22 2023-09-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424410 SCV004146021 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing PREPL: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003975428 SCV004792971 likely benign PREPL-related disorder 2019-02-20 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).
Breakthrough Genomics, Breakthrough Genomics RCV003424410 SCV005263903 likely benign not provided criteria provided, single submitter not provided

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