ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)

dbSNP: rs372137794
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085530 SCV001081705 likely benign Mucopolysaccharidosis type 1 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406518 SCV002722114 likely benign Inborn genetic diseases 2021-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV000675617 SCV000801315 uncertain significance not provided 2017-04-12 no assertion criteria provided clinical testing
Natera, Inc. RCV001085530 SCV001454784 likely benign Mucopolysaccharidosis type 1 2020-09-16 no assertion criteria provided clinical testing

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