ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.589_592del (p.Pro197fs) (rs1602742854)

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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 Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000790546 SCV000929882 pathogenic Mucopolysaccharidosis, MPS-II 2019-01-01 criteria provided, single submitter literature only PVS1: frameshift. PS3: Low/absent enzymatic activity in hemyzygote. PM2: Absent from GnomAD

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