ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) (rs555785323)

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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 RCV000677482 SCV000802991 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); Multiple lines of computational evidence support a deleterious effect on the gene product (PP3)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732121 SCV000860029 likely pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing

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