ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3331T>A (p.Cys1111Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV003444040 SCV004171101 pathogenic Kleefstra syndrome 1 criteria provided, single submitter clinical testing

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