ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)

dbSNP: rs2089304408
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Total submissions: 4
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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 RCV001568370 SCV005089615 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_Strong), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate)
Genome-Nilou Lab RCV001568370 SCV002014466 pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001568370 SCV001480463 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
Ambry Genetics RCV001265724 SCV001443893 likely pathogenic Inborn genetic diseases 2017-12-07 criteria provided, single submitter clinical testing

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