ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11290G>A (p.Gly3764Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004727629 SCV005332448 uncertain significance not provided 2023-09-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005017224 SCV005638813 uncertain significance Polycystic kidney disease, adult type 2024-02-23 criteria provided, single submitter clinical testing

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