ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1677A>G (p.Val559=)

dbSNP: rs913408771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002190605 SCV002359518 likely benign Myasthenic syndrome, congenital, 22 2021-09-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711760 SCV005263901 likely benign not provided criteria provided, single submitter not provided

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