ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1553G>A (p.Trp518Ter)

dbSNP: rs1673169930
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331527 SCV001523587 likely pathogenic Myasthenic syndrome, congenital, 22 2019-11-15 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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