ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.502+1G>A

dbSNP: rs1591371152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988746 SCV001138596 pathogenic Wiedemann-Steiner syndrome 2019-05-28 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526651 SCV001737082 pathogenic Intellectual disability criteria provided, single submitter clinical testing

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