ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253620 SCV000301620 benign not specified criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677585 SCV000803102 benign Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Allele frequency greater than 5% in ExAC (BA1)
Pars Genome Lab RCV000677585 SCV001745259 benign Mucopolysaccharidosis type 6 2021-06-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675208 SCV000800850 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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