ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)

gnomAD frequency: 0.00011  dbSNP: rs746809894
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884800 SCV001028201 likely benign Mucopolysaccharidosis type 1 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000884800 SCV001314991 uncertain significance Mucopolysaccharidosis type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001766789 SCV001991911 uncertain significance not provided 2020-08-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Mayo Clinic Laboratories, Mayo Clinic RCV001766789 SCV002542084 uncertain significance not provided 2021-09-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000884800 SCV002083081 likely benign Mucopolysaccharidosis type 1 2018-04-30 no assertion criteria provided clinical testing

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