ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys)

gnomAD frequency: 0.00001  dbSNP: rs1200655258
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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 RCV000659791 SCV000781644 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001201477 SCV001372546 likely benign Kabuki syndrome 2023-08-27 criteria provided, single submitter clinical testing
Department of Medical Genetics, Oslo University Hospital RCV000659791 SCV001943320 uncertain significance Kabuki syndrome 1 2021-06-01 no assertion criteria provided research

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