ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1007-4C>T

gnomAD frequency: 0.00001  dbSNP: rs781947914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001488683 SCV001693206 likely benign Mucopolysaccharidosis, MPS-II 2023-09-10 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001488683 SCV005089362 uncertain significance Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only 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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