ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.297del (p.Ser102fs)

dbSNP: rs1938291650
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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 RCV001253684 SCV001429530 pathogenic Kabuki syndrome 1 2017-06-12 criteria provided, single submitter clinical testing

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