ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.743del (p.Pro248fs) (rs431905494)

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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 RCV000677591 SCV000803108 pathogenic Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Frameshift variant (PVS1); Absent from GnomAD (PM2);Reputable source identifies as pathogenic (PP5)
OMIM RCV000000930 SCV000021080 pathogenic Mucopolysaccharidosis, type vi, severe 1996-01-01 no assertion criteria provided literature only

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