ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8252G>C (p.Gly2751Ala)

gnomAD frequency: 0.00001  dbSNP: rs1441352481
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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) RCV000730937 SCV000858704 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000730937 SCV001998997 uncertain significance not provided 2019-09-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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