ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.198G>A (p.Gln66=)

dbSNP: rs778184072
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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 RCV001484002 SCV001688410 likely benign Myasthenic syndrome, congenital, 22 2019-12-15 criteria provided, single submitter clinical testing

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