ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)

dbSNP: rs1275386976
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Total submissions: 4
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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 RCV001389838 SCV001547784 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Nonsense variant (PVS1_very strong); absent from gnomAD v2.1.1 (PM2_moderate)
Invitae RCV001389838 SCV001591348 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-08-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001389838 SCV002045012 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001389838 SCV004236693 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-07-28 criteria provided, single submitter clinical testing

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