ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10993C>T (p.Pro3665Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288361 SCV002580603 uncertain significance Kabuki syndrome 1 2022-02-03 criteria provided, single submitter clinical testing

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