ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074429 SCV001240013 uncertain significance Retinal dystrophy 2019-08-16 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV001251049 SCV001426451 pathogenic Mucopolysaccharidosis, MPS-III-C 2020-02-07 criteria provided, single submitter clinical testing
GeneDx RCV001552003 SCV001772615 uncertain significance not provided 2020-05-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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