ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Cologne University RCV001261985 SCV001622592 likely pathogenic O'Donnell-Luria-Rodan syndrome 2021-04-28 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001261985 SCV001439345 pathogenic O'Donnell-Luria-Rodan syndrome 2020-10-12 no assertion criteria provided clinical testing

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