ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9361G>A (p.Glu3121Lys)

dbSNP: rs1281821418
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265525 SCV002547269 uncertain significance not provided 2025-01-09 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27499327, 37372410, 33168999, 23431072)

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