ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) (rs200088180)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723520 SCV000112054 uncertain significance not provided 2015-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000080159 SCV000728617 likely benign not specified 2017-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000521303 SCV000781544 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000339875 SCV001021765 likely benign Kabuki syndrome 2020-11-05 criteria provided, single submitter clinical testing
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas RCV000521303 SCV000538189 likely pathogenic Kabuki syndrome 1 2017-02-01 no assertion criteria provided clinical testing This variant is identified in a male proband presenting with clinical features of Kabuki syndrome. This variant is maternally inherited. The mother shares some clinical features with the son and she has recently been diagnosed with chronic myelogenous leukemia (CML).

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