ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3027del (p.Lys1010fs) (rs1598942578)

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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,Klinikum rechts der Isar RCV000995590 SCV001149855 pathogenic Niemann-Pick disease type C1 2018-10-23 criteria provided, single submitter clinical testing

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