ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.508del (p.Gln170fs)

dbSNP: rs1945392174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254072 SCV001429986 pathogenic Kleefstra syndrome 1 2020-03-26 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, University of Torino RCV001254072 SCV001547477 pathogenic Kleefstra syndrome 1 2021-03-09 no assertion criteria provided research

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