ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) (rs587778483)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000659812 SCV000781671 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121438 SCV000193399 likely benign not specified 2014-03-07 criteria provided, single submitter clinical testing
ITMI RCV000121438 SCV000085632 not provided not specified 2013-09-19 no assertion provided reference population

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