ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.723T>C (p.Asp241=)

gnomAD frequency: 0.00001  dbSNP: rs753702774
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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 RCV001460567 SCV001664444 likely benign Myasthenic syndrome, congenital, 22 2020-08-27 criteria provided, single submitter clinical testing

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