ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1337T>G (p.Leu446Ter)

dbSNP: rs1553352792
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000662357 SCV000784720 pathogenic Myasthenic syndrome, congenital, 22 2018-07-11 no assertion criteria provided literature only

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