ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe)

dbSNP: rs1577543849
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Total submissions: 2
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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 RCV000790542 SCV000929877 uncertain significance Mucopolysaccharidosis type 1 2019-01-01 criteria provided, single submitter literature only PM2: Absent from GnomAD. PP3:multiple lines of computational evidence supporting a deleterious effect (DANN, MutationTaster, GERP, SIFT)
Fulgent Genetics, Fulgent Genetics RCV005036125 SCV005667788 likely pathogenic Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2024-01-10 criteria provided, single submitter clinical testing

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