ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.972+48A>G

gnomAD frequency: 0.17097  dbSNP: rs6811373
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246906 SCV000302984 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543875 SCV001762763 benign Hurler syndrome 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543876 SCV001762764 benign Mucopolysaccharidosis, MPS-I-H/S 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543877 SCV001762765 benign Mucopolysaccharidosis, MPS-I-S 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001658160 SCV001873305 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833263 SCV002075325 benign Mucopolysaccharidosis type 1 2018-04-13 no assertion criteria provided clinical testing

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