ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.3908C>G (p.Ser1303Ter)

dbSNP: rs1799182705
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002226811 SCV002505682 pathogenic O'Donnell-Luria-Rodan syndrome 2022-05-03 criteria provided, single submitter clinical testing

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