ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13583A>T (p.Gln4528Leu)

dbSNP: rs1249858653
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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 RCV001724769 SCV001950057 uncertain significance Kleefstra syndrome 2 2021-07-23 criteria provided, single submitter clinical testing

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