ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.625G>A (p.Gly209Arg)

gnomAD frequency: 0.00001  dbSNP: rs1469544671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769287 SCV002003440 uncertain significance not provided 2020-02-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Geisinger Clinic, Geisinger Health System RCV002285493 SCV002562110 likely pathogenic Maturity-onset diabetes of the young type 1 2022-08-02 criteria provided, single submitter research PP3, PM2, PP4_Moderate, PP1

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