ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.474del (p.His159fs)

dbSNP: rs2124055341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001568374 SCV001480468 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001568374 SCV005089092 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_Moderate)

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