ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp)

dbSNP: rs1444969670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771092 SCV002001408 uncertain significance not provided 2021-01-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002503225 SCV002791157 uncertain significance Polycystic kidney disease 4 2021-10-01 criteria provided, single submitter clinical testing

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