ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr)

gnomAD frequency: 0.00003  dbSNP: rs748969707
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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 RCV000659762 SCV000781612 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000687769 SCV000815355 likely benign Kabuki syndrome 2024-01-04 criteria provided, single submitter clinical testing

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