ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)

dbSNP: rs2089505317
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Total submissions: 3
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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 RCV001290990 SCV005089155 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only In vitro or in vivo functional studies supportive of a damaging effect (PS3_Strong), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Protein length changes in a nonrepeat region or stop–loss variants (PM4_Strong), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate)
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001290990 SCV001480465 likely pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001290990 SCV001450593 pathogenic Mucopolysaccharidosis, MPS-II no assertion criteria provided research

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