ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.420C>T (p.Asp140=)

gnomAD frequency: 0.00003  dbSNP: rs550765961
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001505925 SCV001710840 likely benign Myasthenic syndrome, congenital, 22 2022-06-04 criteria provided, single submitter clinical testing

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