ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg)

gnomAD frequency: 0.00001  dbSNP: rs1185197350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733297 SCV000861345 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing
GeneDx RCV000733297 SCV001999304 uncertain significance not provided 2019-10-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Fulgent Genetics, Fulgent Genetics RCV002477726 SCV002779029 uncertain significance Polycystic kidney disease 4 2022-01-19 criteria provided, single submitter clinical testing

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