ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe)

dbSNP: rs137852945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753399 SCV001985428 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16523049, 14741187, 12846734, 27225849, 11919560)
OMIM RCV000004326 SCV000024497 pathogenic Autosomal recessive polycystic kidney disease 2002-03-01 no assertion criteria provided literature only

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