ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1727+72T>G

gnomAD frequency: 0.17150  dbSNP: rs2305488
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543887 SCV001762775 benign Hurler syndrome 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543888 SCV001762776 benign Mucopolysaccharidosis, MPS-I-H/S 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543952 SCV001762857 benign Mucopolysaccharidosis, MPS-I-S 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001673169 SCV001884109 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673169 SCV005306400 benign not provided criteria provided, single submitter not provided

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