ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1713C>G (p.Leu571=)

gnomAD frequency: 0.00001  dbSNP: rs749490971
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002176532 SCV002474311 likely benign Myasthenic syndrome, congenital, 22 2024-01-02 criteria provided, single submitter clinical testing

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