ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3012_3016del (p.Pro1005fs)

dbSNP: rs2137714332
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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 RCV001706796 SCV001934298 pathogenic Kleefstra syndrome 1 2020-11-05 criteria provided, single submitter clinical testing de novo

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