ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14113_14123del (p.Ile4705fs)

dbSNP: rs2120393512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV001530182 SCV001739463 pathogenic Kabuki syndrome 1 2020-02-28 criteria provided, single submitter clinical testing

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