ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1072G>A (p.Val358Met) (rs1065757)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077997 SCV000109835 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077997 SCV000301614 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352809 SCV000458384 benign Mucopolysaccharidosis type VI 2016-06-14 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000352809 SCV000802948 benign Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Allele frequency > 5% in ExAC (BA1); Classified benign by a reputable source (BP6)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675205 SCV000800847 uncertain significance not provided 2015-10-22 no assertion criteria provided clinical testing

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