ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1872C>T (p.Asp624=)

gnomAD frequency: 0.00001  dbSNP: rs1359281085
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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 RCV001423792 SCV001626376 likely benign Myasthenic syndrome, congenital, 22 2022-07-14 criteria provided, single submitter clinical testing

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