ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8356A>G (p.Lys2786Glu)

dbSNP: rs2544745289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004593520 SCV005079875 uncertain significance not provided 2023-12-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26453610)

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