ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.328C>T (p.Gln110Ter)

gnomAD frequency: 0.00001  dbSNP: rs1554088099
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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 RCV000677547 SCV000803060 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Nonsense variant (PVS1); Absent from GnomAD (PM2)
Baylor Genetics RCV000677547 SCV005055574 pathogenic Mucopolysaccharidosis type 6 2024-02-05 criteria provided, single submitter clinical testing

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