ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.300C>T (p.Leu100=)

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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 RCV003757856 SCV004465757 likely benign Myasthenic syndrome, congenital, 22 2023-03-15 criteria provided, single submitter clinical testing

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