ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) (rs118203942)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078002 SCV000109840 pathogenic not provided 2013-07-25 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000000932 SCV000803049 likely pathogenic Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Very low frequency in ExAc (PM2); Reputable source identifies as pathogenic (PP5)
OMIM RCV000000932 SCV000021082 pathogenic Mucopolysaccharidosis type VI 1996-06-01 no assertion criteria provided literature only

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