ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.543dup (p.Ile182fs)

dbSNP: rs1938252967
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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 Goettingen RCV001263444 SCV001439287 likely pathogenic Kabuki syndrome 1 2020-10-27 criteria provided, single submitter clinical testing

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