ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met)

gnomAD frequency: 0.00002  dbSNP: rs770692765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659737 SCV000781586 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001855389 SCV002132446 benign Kabuki syndrome 2023-02-06 criteria provided, single submitter clinical testing
GeneDx RCV002225705 SCV002504542 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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