ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.691-22T>C (rs6870443)

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Total submissions: 3
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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 RCV000677585 SCV000803102 benign Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Allele frequency greater than 5% in ExAC (BA1)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675208 SCV000800850 benign not provided 2015-10-22 no assertion criteria provided clinical testing
PreventionGenetics RCV000253620 SCV000301620 benign not specified criteria provided, single submitter clinical testing

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