ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.359C>G (p.Pro120Arg) (rs193302911)

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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 RCV000790545 SCV000929880 likely pathogenic Mucopolysaccharidosis, MPS-II 2019-01-01 criteria provided, single submitter literature only PS3: Low/absent enzymatic activity in hemyzygote. PM2: Absent from GnomAD

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