ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu)

dbSNP: rs202217665
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Total submissions: 5
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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 RCV000659716 SCV000781564 pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000277260 SCV001129716 benign Kabuki syndrome 2024-01-12 criteria provided, single submitter clinical testing
Mendelics RCV000659716 SCV001138728 uncertain significance Kabuki syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001706470 SCV001873890 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21671394, 30459467)
PreventionGenetics, part of Exact Sciences RCV004544537 SCV004781984 likely benign KMT2D-related disorder 2021-04-07 criteria provided, single submitter 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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