ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.294_297del (p.Arg99fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289361 SCV002580153 pathogenic Kleefstra syndrome 1 2022-06-20 criteria provided, single submitter clinical testing

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