ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.829C>T (p.Gln277Ter)

dbSNP: rs2089436387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001291010 SCV003825312 pathogenic Mucopolysaccharidosis, MPS-II 2022-04-01 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001291010 SCV005089266 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_VeryStrong), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001291010 SCV001450613 pathogenic Mucopolysaccharidosis, MPS-II no assertion criteria provided research

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