ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)

gnomAD frequency: 0.00080  dbSNP: rs201826605
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553823 SCV000627150 likely benign Mucopolysaccharidosis type 1 2024-01-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329096 SCV001520423 uncertain significance Mucopolysaccharidosis, MPS-I-S 2020-12-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001509227 SCV001715829 uncertain significance not provided 2021-07-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001509227 SCV003810003 uncertain significance not provided 2023-09-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV000553823 SCV004040879 uncertain significance Mucopolysaccharidosis type 1 2023-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942737 SCV004766377 likely benign IDUA-related condition 2022-09-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000553823 SCV001457278 uncertain significance Mucopolysaccharidosis type 1 2020-06-02 no assertion criteria provided clinical testing

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