ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.592G>A (p.Asp198Asn)

dbSNP: rs193302904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IIFP, CONICET-UNLP RCV000204006 SCV000262524 pathogenic Mucopolysaccharidosis, MPS-II 2010-05-17 criteria provided, single submitter research
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000204006 SCV000929881 likely pathogenic Mucopolysaccharidosis, MPS-II 2019-01-01 criteria provided, single submitter literature only PS3: Absent enzymatic activity. PM2: Absent from GnomAD. PP5: reputable source report variant as pathogenic.
Genome-Nilou Lab RCV000204006 SCV002014477 likely pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing

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