ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3462-1G>A

dbSNP: rs1955068468
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264758 SCV001442994 pathogenic Kleefstra syndrome 1 2020-04-03 no assertion criteria provided clinical testing

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