ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4017G>C (p.Glu1339Asp)

dbSNP: rs886043210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000348365 SCV000338952 uncertain significance not provided 2016-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000348365 SCV001996124 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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