ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.-71C>T

gnomAD frequency: 0.00026  dbSNP: rs886059748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000285802 SCV000451728 uncertain significance Mucopolysaccharidosis type 1 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488770 SCV002784039 uncertain significance Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2021-08-04 criteria provided, single submitter clinical testing

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