ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.867del (p.Val290fs)

dbSNP: rs2520850014
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Total submissions: 2
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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 RCV002290134 SCV005089274 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)
MGZ Medical Genetics Center RCV002290134 SCV002581895 pathogenic Mucopolysaccharidosis, MPS-II 2022-09-01 criteria provided, single submitter clinical testing

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