ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1501+1del

dbSNP: rs2136274853
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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 Human Genetics, University of Leipzig Medical Center RCV001706951 SCV001934549 pathogenic Kleefstra syndrome 1 2020-09-24 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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