ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9533G>T (p.Ser3178Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005235952 SCV005881772 uncertain significance not provided 2024-09-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22383692)

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