ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup)

dbSNP: rs748986705
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000578133 SCV000583535 uncertain significance Kabuki syndrome 1 criteria provided, single submitter research
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000578133 SCV000781643 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527121 SCV001013199 likely benign Kabuki syndrome 2024-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000871526 SCV001777688 likely benign not provided 2020-11-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29255178)
PreventionGenetics, part of Exact Sciences RCV004535555 SCV004738505 likely benign KMT2D-related disorder 2021-10-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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