ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.973-45G>C

dbSNP: rs6831021
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252067 SCV000302985 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543878 SCV001762766 benign Hurler syndrome 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543879 SCV001762767 benign Mucopolysaccharidosis, MPS-I-H/S 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543880 SCV001762768 benign Mucopolysaccharidosis, MPS-I-S 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001682962 SCV001896431 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682962 SCV005306389 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001828132 SCV002075326 benign Mucopolysaccharidosis type 1 2018-04-13 no assertion criteria provided clinical testing

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