ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.709C>T (p.Leu237Phe)

gnomAD frequency: 0.00475  dbSNP: rs74385837
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973977 SCV001121774 benign Mucopolysaccharidosis type 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001545966 SCV001765398 likely benign not provided 2019-10-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936179 SCV004756497 benign IDUA-related condition 2019-08-12 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000973977 SCV001457279 benign Mucopolysaccharidosis type 1 2020-04-23 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001545966 SCV001797990 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701278 SCV001919615 benign not specified no assertion criteria provided clinical testing

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