ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1143-27A>C

gnomAD frequency: 0.35324  dbSNP: rs25415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001530431 SCV001745256 benign Mucopolysaccharidosis type 6 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000675203 SCV001939406 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675203 SCV000800845 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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