ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.562C>T (p.Arg188Cys)

dbSNP: rs371892194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764776 SCV001989237 uncertain significance not provided 2021-04-15 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge

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