ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)

gnomAD frequency: 0.00073  dbSNP: rs377452989
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080116 SCV000112011 uncertain significance not provided 2013-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000330812 SCV001012412 likely benign Kabuki syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000080116 SCV001845513 benign not provided 2019-05-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818244 SCV002065274 likely benign not specified 2021-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542763 SCV004770719 likely benign KMT2D-related disorder 2020-01-20 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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