ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.98C>T (p.Ala33Val) (rs201168448)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000435594 SCV000511046 likely benign not provided 2016-06-16 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173054 SCV000224135 benign not specified 2014-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341008 SCV000458390 likely benign Mucopolysaccharidosis type VI 2016-06-14 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000341008 SCV000803136 benign Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Allele frequency greater than expected for disorder (BS1); Homozygotes reported in GnomAD (BS2); Classified benign by a reputable source (BP6)

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