ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1164T>C (p.His388=)

gnomAD frequency: 0.00011  dbSNP: rs375606179
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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 RCV002152544 SCV002418110 likely benign Myasthenic syndrome, congenital, 22 2023-10-26 criteria provided, single submitter clinical testing

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