ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7802G>A (p.Arg2601Gln)

gnomAD frequency: 0.00001  dbSNP: rs746482041
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001598603 SCV001830705 uncertain significance not provided 2020-01-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27567292)

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