ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000341008 SCV000803136 benign Mucopolysaccharidosis type 6 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)
Mendelics RCV000341008 SCV001136842 benign Mucopolysaccharidosis type 6 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000341008 SCV001729202 benign Mucopolysaccharidosis type 6 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000435594 SCV001862369 benign not provided 2020-11-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17458871, 21228398, 22133300)

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