ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.301C>T (p.Arg101Cys)

gnomAD frequency: 0.00004  dbSNP: rs782738754
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Total submissions: 6
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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 RCV001088215 SCV005088968 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)
Revvity Omics, Revvity RCV001088215 SCV004235541 uncertain significance Mucopolysaccharidosis, MPS-II 2023-08-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001088215 SCV002014459 uncertain significance Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088215 SCV000753284 benign Mucopolysaccharidosis, MPS-II 2024-08-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000353621 SCV000340484 uncertain significance not provided 2016-03-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833368 SCV002084496 likely benign Mucopolysaccharidosis, MPS-III-A 2020-01-15 no assertion criteria provided clinical testing

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