ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.716T>G (p.Leu239Arg)

dbSNP: rs2083042603
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091762 SCV001247969 pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253161 SCV001428737 uncertain significance Developmental and epileptic encephalopathy, 28 2023-06-21 criteria provided, single submitter clinical testing Criteria applied: PM3,PM2_SUP,PP3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091762 SCV001447531 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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