ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2018+1G>C

dbSNP: rs1950997931
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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 Medical Genetics, Oslo University Hospital RCV001263214 SCV001437576 pathogenic Kleefstra syndrome 1 2018-02-01 criteria provided, single submitter clinical testing

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