ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup)

dbSNP: rs576788910
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598083 SCV000702133 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659796 SCV000781650 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001523073 SCV001732729 benign Kabuki syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000598083 SCV001851549 benign not provided 2020-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821717 SCV002065630 likely benign not specified 2019-04-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945379 SCV004769081 likely benign KMT2D-related condition 2021-07-26 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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