ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter)

dbSNP: rs1203870830
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578230 SCV000680214 pathogenic Vici syndrome 2017-10-25 criteria provided, single submitter clinical testing

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