ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr)

gnomAD frequency: 0.00006  dbSNP: rs200106242
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Total submissions: 2
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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 RCV000659697 SCV000781543 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001861712 SCV002305891 benign Kabuki syndrome 2023-09-08 criteria provided, single submitter clinical testing

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