ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His)

gnomAD frequency: 0.00053  dbSNP: rs201481646
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000121443 SCV000202904 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659829 SCV000781692 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000659829 SCV000782633 uncertain significance Kabuki syndrome 1 2017-03-23 criteria provided, single submitter clinical testing
Invitae RCV000865112 SCV001006028 likely benign Kabuki syndrome 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001705895 SCV001903135 benign not provided 2019-03-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28440294, 30459467)
Ambry Genetics RCV002515877 SCV003526122 likely benign Inborn genetic diseases 2021-07-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001705895 SCV004033204 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KMT2D: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV004542884 SCV004764373 likely benign KMT2D-related disorder 2022-02-22 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).
ITMI RCV000121443 SCV000085637 not provided not specified 2013-09-19 no assertion provided reference population
Autoinflammatory diseases unit, CHU de Montpellier RCV000659829 SCV001438157 likely pathogenic Kabuki syndrome 1 2013-10-01 no assertion criteria provided clinical testing

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