ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.1454del (p.Pro485fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002292752 SCV002585177 pathogenic not provided 2022-08-01 criteria provided, single submitter clinical testing KDM5B: PVS1, PM2
GeneDx RCV002292752 SCV003842491 pathogenic not provided 2023-03-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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