ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.313-26T>C

gnomAD frequency: 0.30072  dbSNP: rs3733895
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248655 SCV000301619 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530432 SCV001745260 benign Mucopolysaccharidosis type 6 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000675210 SCV001757206 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675210 SCV000800852 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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