ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)

dbSNP: rs587783704
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146186 SCV000193418 likely pathogenic Kabuki syndrome 1 2014-03-07 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000146186 SCV000781702 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000146186 SCV003807547 likely pathogenic Kabuki syndrome 1 2022-10-29 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 moderated, PM2 moderated, PM4, PM6 moderated
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000146186 SCV001190746 likely pathogenic Kabuki syndrome 1 2020-02-05 no assertion criteria provided clinical testing
Autoinflammatory diseases unit, CHU de Montpellier RCV000146186 SCV001438162 pathogenic Kabuki syndrome 1 2013-10-01 no assertion criteria provided clinical testing

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