ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1327del (p.Thr443fs)

dbSNP: rs2115767079
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729996 SCV001976723 pathogenic Congenital myasthenic syndrome 4C 2021-08-10 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP5

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