ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1591A>G (p.Lys531Glu)

dbSNP: rs796052681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187979 SCV000241582 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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
Centogene AG - the Rare Disease Company RCV001808467 SCV002059547 uncertain significance Seizures, benign familial neonatal, 2 2019-09-30 criteria provided, single submitter clinical testing

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