ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4347C>G (p.Asn1449Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004769498 SCV005377663 uncertain significance not provided 2023-12-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005017267 SCV005643265 uncertain significance Polycystic kidney disease, adult type 2024-04-05 criteria provided, single submitter clinical testing

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